Table 2.
Literature review on parental mosaicism since 2009 for cohort studies with more than 10 families
| Disease | Author | Year | Sample Size | Sample Type | Detection Method | Parental Mosaicism | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Paternal | Maternal | Unknown | Total | Percentage | Detectable %VAF | ||||||
| AHC | Yang et al | 2019 | 80 families | Blood/Saliva/Buccal mucosa/Hair/Skin/Urine/Sperm | Deep sequencing/SS/mddPCR | 4 | 2 | 0 | 6/80 | 7.5% | 0.03–33.03% |
| Autism | Krupp et al | 2017 | 2264 families | Blood | ES | 63* | 49* | 0 | NA | 6.80% | 7.9–36.1% |
| Breuss et al | 2020 | 14 families | Sperm | GS | 3 | 0 | 0 | 3/14 | 21.43% | 0.6–14.5% | |
| Developmental and epileptic encephalopathy | Liu et al | 2019 | 22 families | Blood/Buccal mucosa/Hair/Nails/Urine | Targeted sequencing/SS/MLPA/mddPCR | 2 | 0 | 0 | 2/22 | 9.09% | 1.2–-37.38% |
| Diverse Mendelian Disease | Cao et al | 2019 | 12,000 samples (120 candidate parental mosaic variants) | Blood | ES/Deep sequencing/Sanger Sequencing | 14 | 25 | 1 | 40/12,000 | 0.33% | 3.1–67.8% |
| Gambin et al | 2020 | 2000 families (102 candidate parental mosaic variant) | Blood/Saliva/Buccal mucosa/Hair/Urine | ES/Deep sequencing/ddPCR/BDA | 0 | 0 | 27 | 27/102 | 26.47% | 0.3–18.2% | |
| Shu et al | 2021 | 237 families | Blood/Saliva/Buccal mucosa/Hair/Urine | Deep sequencing/ddPCR | 4 | 10 | 0 | NA | 3.00% | 0.22–34.0% | |
| This study | 2022 | 21 families | Blood/Buccal mucosa/Sperm | ES/SS/BDA/ddPCR | 1 | 2 | 1 | 4/21 | 19.00% | 8.7–35.9% | |
| DMD | Helderman-van den Enden et al | 2009 | 318 families | Blood | Haplotyping | 0 | 19 | 0 | 19/318 | 5.97% | NA |
| Zhong et al | 2019 | 74 families | Blood | Targeted sequencing/MLPA | 0 | 2 | 0 | 2/74 | 2.70% | NA | |
| Epilepsy | Depienne et al | 2010 | 177 families | Blood/Sperm | SS,QAS-PCR, haplotyping | 6 | 7 | 0 | 13/177 | 7.34% | 0.04–24% |
| Xu et al | 2015 | 174 families | Blood/Saliva/Buccal mucosa/Hair/Urine | Deep sequencing/SS/MLPA/dPCR | 13 | 7 | 0 | 20/174 | 11.49% | 1.1–32.6% | |
| Yang et al | 2017 | 112 families | Blood/Sperm | Deep sequencing/SS /MLPA/mddPCR | 18 | 11 | 0 | 29/112 | 25.89% | 0.01–39.04% | |
| Myers et al | 2018 | 120 families | Blood/Saliva | smMIP | 6 | 4 | 0 | 10/120 | 8.33% | 1.4–3.6% | |
| de Lange et al | 2019 | 80 families | Blood | Deep sequencing/ddPCR | 3 | 1 | 0 | 4/80 | 5.00% | 0.5–8.0% | |
| Rikke S Møller | 2019 | 75 families | Blood/Buccal mucosa/Urine | Gene panel sequencing | 4 | 1 | 0 | 5/75 | 6.67% | 0.8–29% | |
| Holoprosencephaly | Paulussen et al | 2010 | 86 families | Blood/Sperm | SS/haplotyping | 0 | 1 | 0 | 1/86 | 1.16% | NA |
| Hu et al | 2019 | 136 families | Blood | Targeted sequencing/ddPCR | 2 | 3 | 0 | 5/136 | 3.68% | 0.1–13% | |
| ID | Acuna-Hidalgo et al | 2017 | 50 families | Blood | GS | 3 | 1 | 0 | 4/50 | 8.00% | 0.22–6.15% |
| Wright et al | 2019 | 420 families | Blood/Saliva | ES/Deep sequencing | 13 | 8 | 0 | 21/420 | 0.50% | 0.5–33.0% | |
| Frisk et al | 2022 | 44 families | Blood/Sperm | ES/ddPCR | 2 | 0 | 0 | 2/44 | 4.55% | 1.1–20.24% | |
| Malformation of cortical development | Zillhardt et al | 2016 | 18 families | Blood | ES/ddPCR/SS | 1 | 2 | 1 | 4/18 | 22.22% | 4.31–4.57% |
| Mandibulofacial Dysostosis with Microcephaly | Huang et al | 2016 | 94 families | Blood | Sanger Sequencing/Haplotyping | 0 | 1 | 0 | 1/94 | 1.06% | NA |
| Marfan and Ehlers-Danlos syndromes | Chesneau et al | 2021 | 333 families | Blood | Targeted sequencing/SS/HRMA | 2 | 1 | 0 | 3/62 | 4.84% | 1.1–13.6% |
| MPSII | Alcantara-Ortigoza et al | 2016 | 25 families | Blood//Buccal mucosa/Hair/Urine | SS | 0 | 1 | 0 | 1/25 | 4.00% | NA |
| OI | Pyott et al | 2011 | 37 families | Blood | SS | 2 | 4 | 0 | 6/37 | 16.22% | NA |
| Shaheen et al | 2012 | 13 families | Blood | SS | 0 | 0 | 2 | 2/13 | 15.38% | NA | |
| PID | Mensa-Vilaro et al | 2019 | 92 families | Blood//Buccal mucosa/Hair/Urine/Sperm | Gene panel/SS | 1 | 5 | 1 | 7/92 | 7.61% | 2.7–21.2% |
| Rett syndrome | Zhang et al | 2018 | 21 families | Blood/Saliva/Sperm | ddPCR | 5 | 0 | 0 | 5/21 | 23.81% | 0.03–7.55% |
| X-linked ALD | Wang et al | 2011 | 489 families | Blood | SS | 1 | 2 | 1 | 4/489 | 0.82% | NA |
AHC: Alternating hemiplegia of childhood; ALD: adrenoleukodystrophy; ES: exome sequencing; VAF: Variant allele frequency; BDA: blocker displacement amplification; DMD: Duchenne muscular dystrophy; dPCR: digital polymerase chain reaction; ddPCR: droplet dPCR; HRMA: high-resolution melting analysis; mddPCR: micro ddPCR; MLPA: Multiplex Ligation-dependent Probe Amplification; ID: intellectual disability; MPSII: Mucopolysaccharidosis type II; OI: Osteogenesis imperfecta; PID: Primary immunodeficiency diseases; SS: Sanger Sequencing. *Numbers extracted from best practice filter