Skip to main content
NCBI home page
Bone Reports logoLink to Bone Reports
. 2026 Jan 26;28:101901. doi: 10.1016/j.bonr.2026.101901

Osteogenesis Imperfecta with a gross deletion including the COL1A1 gene, induced by Alu-driven microhomology-mediated end joining

Kenichi Yamamoto a,b,⁎, Hirofumi Nakayama b,c, Yusaku Ito b, Masaya Hattori b, Takaaki Shimada b, Ikumi Ueda b, Takeshi Ishimi b, Chieko Yamada b, Yukako Nakano b, Makoto Fujiwara b, Takuo Kubota b,d, Yasuhisa Ohata b, Yasuji Kitabatake b
PMCID: PMC12878673  PMID: 41660581

Abstract

Osteogenesis Imperfecta (OI) is a rare hereditary brittle bone disorder typically caused by COL1A1 and COL1A2 variants impairing type I collagen. However, gross deletions involving COL1A1 are uncommon. Here, we report a family with type I OI harboring a 101-kbp deletion encompassing COL1A1, identified through whole genome analysis. Affected individuals presented mild phenotypes. Breakpoint analysis revealed a 5-bp microhomology-mediated end joining involving an Alu element. This report expands the understanding of genetic mechanisms underlying OI.

Keywords: Osteogenesis Imperfecta, COL1A1, Deletion, Whole genome analysis, Microhomology

1. Introduction

Osteogenesis Imperfecta (OI) is a rare heritable skeletal disorder characterized by bone fragility and deformity, with estimated prevalence of 1 in 15,000–20,000 births (Jovanovic et al., 2021). The representative symptoms include frequent bone fractures, markedly reduced bone mineral density, and extra-skeletal features such as blue or gray sclerae, dentinogenesis imperfecta, hearing loss, and ligamentous laxity (Rauch and Glorieux, 2004). Patients are classically classified into four OI subtypes based on clinical features as proposed by Sillence et al. (1979), and are typically treated with bisphosphonates.

Advances in genetic testing have identified the involvement of novel genes and pathogenic variants, with approximately 40 genes now associated with OI (Jovanovic and Marini, 2024; Unger et al., 2023; Yamada et al., 2022). These genes affect collagen folding, posttranslational modification and processing, bone mineralization, and osteoblast differentiation. In most patients, OI is caused by pathogenic variants in the COL1A1 and COL1A2, which encode type I collagen, in an autosomal dominant manner (Jovanovic and Marini, 2024).

Generally, structural variants (SVs), including copy number variations (CNVs), can cause substantial alterations in genome structure, often affecting the gene expression and contributing to rare diseases. In rare disease genetics, advances in whole genome sequencing (WGS) have enabled the detection of pathogenic SVs (Pagnamenta et al., 2023; Yuan et al., 2023). The detection of SVs using WGS is expected to improve genetic diagnostic rates and deepen the understanding of disease mechanisms. Nonetheless, the predominant pathogenic variants in OI are point mutations, and the large deletions involving COL1A1 have been reported only in a few cases (Bardai et al., 2016; Batkovskyte et al., 2024; Dijk et al., 2010). According to the public version of Human Gene Mutation Database, only 12 gross deletions have been registered out of the 1208 pathogenic variants in COL1A1 as of August 2025. For SVs, the breakpoint information is as important as the sequence content for understanding the mutational mechanisms involved. WGS has the potential to provide high-resolution breakpoint information (Abyzov et al., 2015). However, only a few OI cases have been characterized with respect to their breakpoints (Batkovskyte et al., 2024). In this report, we present an OI family with a heterozygous 101-kilobase pair (kbp) deletion encompassing the entire COL1A1 gene, likely resulting from microhomology-mediated end joining, identified through whole genome sequencing.

2. Case

2.1. Case presentation

The proband was a 5-year-old Japanese boy. He experienced three fractures at the age of 4 and was referred to our hospital for the diagnosis and treatment of OI. He was born at full term and had no bone deformities or fractures at birth. At the age of 5, his height was −0.80 standard deviation score (SDS), and his weight was −0.60 SDS, both within the normal range. His arm span-height ratio was approximately 100%. He had blue sclera but no bone deformity or dentinogenesis imperfecta. Blood tests showed serum calcium, phosphate, alkaline phosphatase, and parathyroid hormone levels within age-specific normal ranges; however, the serum 25-hydroxyvitamin D level was 6 ng/mL, indicating vitamin D deficiency. Bone X-rays revealed a mildly thin cortical bone without Wormian bones and limb deformities (Fig. 1). Bone mineral density (BMD) at the lumbar spine (L1-L4) was 0.39 g/cm2 (height-adjusted SDS: −1.8), and the total body BMD excluding head was 0.41 g/cm2 (height-adjusted SDS: −2.6). His father had been clinically diagnosed with OI, had experienced more than ten fractures, had blue sclera and osteoporosis, and was being treated with bisphosphonate. His mother was healthy and asymptomatic. After the proband's visit, his younger brother was also found to have blue sclera and had experienced one fracture. Based on these findings, the proband was clinically diagnosed with OI type 1, and bisphosphonate treatment was initiated.

Fig. 1.

Fig. 1

Open in a new tab

Bone X-rays of the proband referring to our hospital.

No Wormian bones were observed, the bone cortex was mildly thin, and no limb deformities were present.

2.2. Genetic analyses

To confirm the clinical diagnosis, we initially performed whole exome sequencing (WES). Based on the results, whole genome sequencing (WGS) and Sanger sequencing were done to determine breakpoints of the detected CNV. The present analysis was approved by the Ethical Review Board of The University of Osaka Hospital (approval no. 688). Informed consent was obtained from the proband's parents. Genomic DNA was extracted from a blood sample using QuickGene-Auto 12S (Kurabo, Japan). WES was performed by Macrogen (https://www.macrogen-japan.co.jp/) using a NovaSeq 6000 with 150-bp paired-end reads. Exon capture and library preparation were conducted using Agilent SureSelect Human All Exon V6 kit (Agilent Technologies, Santa Clara, CA, USA). We conducted the bioinformatics analyses as the following procedures (Alganmi and Abusamra, 2023): adapter trimming using NGmerge (Gaspar, 2018), mapping reads to the reference human genome (GRCh38) using BWA-MEM2, calling variants (single nucleotide variants [SNVs] or short insertions or deletions [Indels]) using Genome Analysis Toolkit (GATK; version 4.6.0) HaplotypeCaller, and annotating variants with Ensembl Variant Effect Predictor (VEP; version 107). Rare variants with an allele frequency < 1% in gnomAD East Asian (EAS) and 3.5KJPN dataset from the Tohoku Medical Megabank were extracted, and the pathogenicity was assessed by expert consensus. For CNV analysis, we used the Case mode of GATK-gCNV with an in-house control reference panel (Babadi et al., 2023), and annotated detected CNVs with AnnotSV (version 3.4.1). We evaluated the following genes related to OI: COL1A1, COL1A2, FKBP10, SERPINH1, IFITM5, SERPINF1, CRTAP, P3H1, PPIB, SP7, BMP1, CREB3L1, TMEM38B, WNT1, SPARC, TENT5A, MBTPS2, MESD, SEC24D, CCDC134, KDELR2, LRP5, PLOD2, P4HB, PLS3, SGMS2, ANO5, XYLT2, GORAB, PYCR1, IFIH1, DDX58, TRIP4, ASCC1, SMAD3, TNFRSF11A, TNFRSF11B, MMP2, MMP14, NOTCH2, ARHGAP25.

To detect CNV breakpoints, we performed WGS at Macrogen using NovaSeq 6000 with 150-bp pair-end reads. Structural variants, including CNVs, were called using Manta (version 1.6.0) (Chen et al., 2015). The deletion was visualized with the Integrative Genomics Viewer (IGV). Additionally, we conducted Sanger sequencing to confirm the deletion and to determine the precise breakpoints in the proband and his father, using the following primers; 5′-AGACGAGAGACTCTCCACCC-3′ (forward), 5′-GGGGACAGACGAGAGACTCT-3′ (reverse1), and 5′-AGGGGACAGACGAGAGACTC-3′ (reverse2).

Within the breakpoints, we evaluated the intersection of short interspersed nuclear elements (SINEs) using RepeatMasker (version 4.2.0) and the sequence similarity using BLASTN (version 2.14.1).

3. Results

No pathogenic SNVs and Indels were identified in the above OI-related genes in the WES analysis. In CNV analysis using GATK-gCNV, we first identified an approximately 57-kbp heterozygous deletion in COL1A1. Next, we performed the confirmation analysis of the deletion using Manta on WGS, detecting a 101-kbp heterozygous deletion on chromosome 17 (Fig. 2a). This region encompassed the entire COL1A1 and SGCA genes, as well as part of PPP1R9B. Sanger sequencing confirmed the deletion and determined precise breakpoint positions from 50,143,793 to 50,245,237 on chromosome 17 (Fig. 2b). The deletion was also observed in the proband's father (Fig. 2c). The same deletion was subsequently confirmed in his younger brother (data not shown). Breakpoint analysis further revealed that the 3′ end breakpoint was located within an AluSz6 as SINE, annotated by RepeatMasker (Fig. 2a). The similarity analysis using BLASTN identified a 5-bp microhomology shared between the two breakpoint sequences (Fig. 2d).

Fig. 2.

Fig. 2

Open in a new tab

Details of the deletion detected by whole genome sequencing.

a) Upper panel: location of the deletion on chromosome 17. Middle panel: coverage plot of the deletion detected by Manta in WGS, visualized in IGV; the blue double-headed arrow indicates the 101 kbp deletion range; the black arrows represent each primer for Sanger sequencing. Lower panel: genes from GENCODE v48 and short interspersed nuclear elements (SINEs) annotated by RepeatMasker. In SINEs, black bars indicate Alu elements, and gray bars are other elements. A red bar represents the AluSz6. The plot is adapted from the UCSC Genome Browser. b) Sanger sequencing results in the proband. c) The results of PCR for the proband, the affected father, and a healthy control. Two pairs of the primers (F1-R1, and F1-R2) were tested to confirm the deletion. d) The breakpoint comparison between the reference genome and the proband. Underlines indicate microhomology; orange denotes the 5′ end sequence and blue denotes the 3′ end sequence at the breakpoint.

4. Discussion

We report a case of OI type 1 with a gross deletion including COL1A1, detected by high-throughput genome-wide analyses (WES/WGS). As this specific deletion has not been previously reported, it represents a novel variant. We consider this deletion causative in our OI case based on the pathogenic classification according to the American College of Medical Genetics and Genomics guidelines and its segregation among affected family members. As only 1% of pathogenic COL1A1 variants in public databases such as HGMD are entire gene deletions, structural variants in OI are relatively rare. Although WES suggested a large CNV as the cause in our case, CNV detection in WES is limited compared to WGS, particularly in the breakpoint accuracy (Meienberg et al., 2016). Therefore, gross deletions in OI might be overlooked in its genetic testing due to the restrictions of WES. While WGS is more expensive than WES, it is likely to be effective for resolving genetically undiagnosed OI cases as in our case.

In genotype-phenotype correlations in OI, glycine substitutions in COL1A1 and COL1A2 are typically associated with severe phenotypes (Jovanovic and Marini, 2024; Ohata et al., 2019; Rauch and Glorieux, 2004). In contrast, null variants in type I collagen-related genes are generally associated with mild phenotypes (Jovanovic and Marini, 2024). Most OI cases with complete COL1A1 deletions are reported to have mild phenotypes, as in our case (Bardai et al., 2016; Batkovskyte et al., 2024; Dijk et al., 2010). The large deletion causes the haploinsufficiency of COL1A1 gene expression, leading to mild phenotypes. In our case, the deletion also encompassed the SGCA and PPP1R9B genes. SGCA is associated with the autosomal recessive limb-girdle muscular dystrophy-3 (MIM 608099). Although our patients did not exhibit progressive muscle weakness or elevated serum creatine kinase, they are carriers of this disease. Given the allele's carrier frequency of approximately 1 in 500 (Hayashi et al., 1995), genetic counseling may be warranted for the pediatric patients to inform them of their carrier status and future reproductive risks. As PPP1R9B has not been associated with Mendelian diseases, the impact of its partial deletion in our patients remains unknown.

We identified a 5-bp microhomology at the breakpoint sequences, suggesting a potential mechanism for the structural variant. Microhomology-mediated end joining (MMEJ) is an alternative nonhomologous end-joining pathway and a well-known driver of genomic rearrangements (Sfeir and Symington, 2015). Following DNA double-strand breaks, MMEJ acts as a repair mechanism, often resulting in large genomic deletions. Although the definite trigger for the DNA double-strand break is unknown, we identified an Alu element (AluSz6) at the 3′ end of the breakpoint (Fig. 2a). Alu elements are short repetitive sequences belonging to the SINE family, occupying approximately 10% of the human genome. They comprise different subfamilies, each sharing similar sequences within its group. Because of this, Alu sequences can contribute to genomic instability and promote DNA rearrangements (White et al., 2015). Previous studies have shown that chromosome 17, in particular, is enriched for Alu elements (Balachandran et al., 2022; Gu et al., 2015). In our case, Alu elements are dense in the deletion region, as shown in Fig. 2. While Alu-Alu-mediated nonhomologous recombination is well discussed, our case suggests an alternative mechanism: an Alu element at one breakpoint end may drive genomic instability, leading to DNA breakage with MMEJ acting as the repair mechanism. Our findings suggest that there may be more OI cases with large deletions in COL1A1 caused by Alu-driven MMEJ than previously expected. Furthermore, a detailed breakpoint evaluation provides insights into disease mechanisms and can be useful for genetic counseling within the proband's family. Such insights may also inform the future development of treatments.

5. Conclusion

We report a mild OI family case with a gross deletion encompassing the entire COL1A1 gene, detected by WGS. Careful breakpoint evaluation suggests an Alu element may have driven MMEJ. This case expands understanding of the clinical genetics of OI, highlighting the role of structural variants in rare diseases.

CRediT authorship contribution statement

Kenichi Yamamoto: Writing – original draft, Visualization, Project administration, Investigation, Data curation, Conceptualization. Hirofumi Nakayama: Writing – review & editing, Project administration, Investigation, Data curation. Yusaku Ito: Writing – review & editing, Resources. Masaya Hattori: Writing – review & editing, Resources. Takaaki Shimada: Writing – review & editing, Resources. Ikumi Ueda: Writing – review & editing, Resources. Takeshi Ishimi: Writing – review & editing, Resources. Chieko Yamada: Writing – review & editing, Resources. Yukako Nakano: Writing – review & editing, Resources. Makoto Fujiwara: Writing – review & editing, Supervision, Resources, Investigation. Takuo Kubota: Writing – review & editing, Supervision, Resources, Investigation. Yasuhisa Ohata: Writing – review & editing, Supervision, Project administration, Conceptualization. Yasuji Kitabatake: Writing – review & editing, Supervision, Resources.

Declaration of competing interest

All authors have no conflicts of interest to disclose.

Acknowledgements

We thank the patient and the family members. This study was supported in part by a research grant on rare and intractable diseases from the Ministry of Health, Labour and Welfare of Japan (22FC1012 and 25FC1011 to Takuo Kubota and Yasuhisa Ohata), JSPS KAKENHI Grant (24K18556 to Kenichi Yamamoto), and The Japanese Society for Pediatric Endocrinology Future Development Grant (to Kenichi Yamamoto).

Data availability

No data was used for the research described in the article.

References

  1. Abyzov A., Li S., Kim D.R., Mohiyuddin M., Stütz A.M., Parrish N.F., Mu X.J., Clark W., Chen K., Hurles M., Korbel J.O., Lam H.Y.K., Lee C., Gerstein M.B. Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms. Nat. Commun. 2015;6(1):7256. doi: 10.1038/ncomms8256. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Alganmi N., Abusamra H. Evaluation of an optimized germline exomes pipeline using BWA-MEM2 and Dragen-GATK tools. PLoS One. 2023;18(8) doi: 10.1371/journal.pone.0288371. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Babadi M., Fu J.M., Lee S.K., Smirnov A.N., Gauthier L.D., Walker M., Benjamin D.I., Zhao X., Karczewski K.J., Wong I., Collins R.L., Sanchis-Juan A., Brand H., Banks E., Talkowski M.E. GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data. Nat. Genet. 2023;55(9):1589–1597. doi: 10.1038/s41588-023-01449-0. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Balachandran P., Walawalkar I.A., Flores J.I., Dayton J.N., Audano P.A., Beck C.R. Transposable element-mediated rearrangements are prevalent in human genomes. Nat. Commun. 2022;13(1):7115. doi: 10.1038/s41467-022-34810-8. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Bardai G., Lemyre E., Moffatt P., Palomo T., Glorieux F.H., Tung J., Ward L., Rauch F. Osteogenesis Imperfecta Type I caused by COL1A1 deletions. Calcif. Tissue Int. 2016;98(1):76–84. doi: 10.1007/s00223-015-0066-6. [DOI] [PubMed] [Google Scholar]
  6. Batkovskyte D., Swolin-Eide D., Hammarsjö A., Sæther K.B., Thunström S., Lundin J., Eisfeldt J., Lindstrand A., Nordgren A., Åström E., Grigelioniene G. Structural variants in COL1A1 and COL1A2 in osteogenesis imperfecta. Am. J. Med. Genet. A. 2024 doi: 10.1002/ajmg.a.63935. [DOI] [PubMed] [Google Scholar]
  7. Chen X., Schulz-Trieglaff O., Shaw R., Barnes B., Schlesinger F., Källberg M., Cox A.J., Kruglyak S., Saunders C.T. Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications. Bioinformatics. 2015;32(8):1220–1222. doi: 10.1093/bioinformatics/btv710. [DOI] [PubMed] [Google Scholar]
  8. Dijk F.S. van, Huizer M., Kariminejad A., Marcelis C.L., Plomp A.S., Terhal P.A., Meijers-Heijboer H., Weiss M.M., Rijn R. R.van, Cobben J.M., Pals G. Complete COL1A1 allele deletions in osteogenesis imperfecta. Genet. Med. 2010;12(11):736–741. doi: 10.1097/gim.0b013e3181f01617. [DOI] [PubMed] [Google Scholar]
  9. Gaspar J.M. NGmerge: merging paired-end reads via novel empirically-derived models of sequencing errors. BMC Bioinformatics. 2018;19(1):536. doi: 10.1186/s12859-018-2579-2. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Gu S., Yuan B., Campbell I.M., Beck C.R., Carvalho C.M.B., Nagamani S.C.S., Erez A., Patel A., Bacino C.A., Shaw C.A., Stankiewicz P., Cheung S.W., Bi W., Lupski J.R. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum. Mol. Genet. 2015;24(14):4061–4077. doi: 10.1093/hmg/ddv146. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Hayashi Y.K., Mizuno Y., Yoshida M., Nonaka I., Ozawa E., Arahata K. The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan. Neurology. 1995;45(3):551–554. doi: 10.1212/wnl.45.3.551. [DOI] [PubMed] [Google Scholar]
  12. Jovanovic M., Marini J.C. Update on the genetics of Osteogenesis Imperfecta. Calcif. Tissue Int. 2024;115(6):891–914. doi: 10.1007/s00223-024-01266-5. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Jovanovic M., Guterman-Ram G., Marini J.C. Osteogenesis Imperfecta: mechanisms and signaling pathways connecting classical and rare OI types. Endocr. Rev. 2021;43(1):61–90. doi: 10.1210/endrev/bnab017. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Meienberg J., Bruggmann R., Oexle K., Matyas G. Clinical sequencing: is WGS the better WES? Hum. Genet. 2016;135(3):359–362. doi: 10.1007/s00439-015-1631-9. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Ohata Y., Takeyari S., Nakano Y., Kitaoka T., Nakayama H., Bizaoui V., Yamamoto K., Miyata K., Yamamoto K., Fujiwara M., Kubota T., Michigami T., Yamamoto K., Yamamoto T., Namba N., Ebina K., Yoshikawa H., Ozono K. Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta. Osteoporos. Int. 2019;30(11):2333–2342. doi: 10.1007/s00198-019-05076-6. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Pagnamenta A.T, Camps C., Giacopuzzi E., Taylor J.M., Hashim M., Calpena E., Kaisaki P.J., Hashimoto A., Yu J., Sanders E., Schwessinger R., Hughes J.R., Lunter G., Dreau H., Ferla M., Lange L., Kesim Y., Ragoussis V., Vavoulis D.V., Allroggen H., Ansorge O., Babbs C., Banka S., Baños-Piñero B., Beeson D., Ben-Ami T., Bennett D.L., Bento C., Blair E., Brasch-Andersen C., Bull K.R., Cario H., Cilliers D., Conti V., Davies E.G., Dhalla F., Dacal B.D., Dong Y., Dunford J.E., Guerrini R., Harris A.L., Hartley J., Hollander G., Javaid K., Kane M., Kelly D., Kelly D., Knight S.J.L., Kreins A.Y., Kvikstad E.M., Langman C.B., Lester T., Lines K.E., Lord S.R., Lu X., Mansour S., Manzur A., Maroofian R., Marsden B., Mason J., McGowan S.J., Mei D., Mlcochova H., Murakami Y., Németh A.H., Okoli S., Ormondroyd E., Ousager L.B., Palace J., Patel S.Y., Pentony M.M., Pugh C., Rad A., Ramesh A., Riva S.G., Roberts I., Roy N., Salminen O., Schilling K.D., Scott C., Sen A., Smith C., Stevenson M., Thakker R.V., Twigg S.R.F, Uhlig H.H., van Wijk R., Vona B., Wall S., Wang J., Watkins H., Zak J., Schuh A.H., Kini U., Wilkie A.O.M., Popitsch N., Taylor J.C. Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases. Genome Med. 2023;15(1):94. doi: 10.1186/s13073-023-01240-0. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Rauch F., Glorieux F.H. Osteogenesis imperfecta. Lancet. 2004;363(9418):1377–1385. doi: 10.1016/s0140-6736(04)16051-0. [DOI] [PubMed] [Google Scholar]
  18. Sfeir A., Symington L.S. Microhomology-mediated end joining: a back-up survival mechanism or dedicated pathway? Trends Biochem. Sci. 2015;40(11):701–714. doi: 10.1016/j.tibs.2015.08.006. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Sillence D.O., Senn A., Danks D.M. Genetic heterogeneity in osteogenesis imperfecta. J. Med. Genet. 1979;16(2):101. doi: 10.1136/jmg.16.2.101. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Unger S., Ferreira C.R., Mortier G.R, Ali H., Bertola D.R, Calder A., Cohn D.H., Cormier-Daire V., Girisha K.M., Hall C., Krakow D., Makitie O., Mundlos S., Nishimura G., Robertson S.P., Savarirayan S., Sillence D., Simon M., Sutton V.R, Warman M.L., Superti-Furga A. Nosology of genetic skeletal disorders: 2023 revision. Am. J. Med. Genet. A. 2023;191(5):1164–1209. doi: 10.1002/ajmg.a.63132. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. White T.B., Morales M.E., Deininger P.L. Alu elements and DNA double-strand break repair. Mob. Genet. Elem. 2015;5(6):81–85. doi: 10.1080/2159256x.2015.1093067. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Yamada C., Kubota T., Ishimi T., Takeyari S., Yamamoto K., Nakayama H., Ohata Y., Fujiwara M., Kitaoka T., Ozono K. A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta. Clin. Pediatr. Endocrinol. 2022;31(3):205–208. doi: 10.1297/cpe.2022-0027. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Yuan Y., Zhou X., Deng J., Zhu Q., Peng Z., Chen L., Zou Y., Mao A., Meng W., Ma M., Wu H. Case report: long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China. Front. Genet. 2023;14 doi: 10.3389/fgene.2023.1156071. [DOI] [PMC free article] [PubMed] [Google Scholar]

Associated Data

This section collects any data citations, data availability statements, or supplementary materials included in this article.

Data Availability Statement

No data was used for the research described in the article.

Articles from Bone Reports are provided here courtesy of Elsevier

RESOURCES