Skip to main content
. 2022 Mar 25;13:842860. doi: 10.3389/fgene.2022.842860

TABLE 1.

Disease phenotypes associated with insertions (+/− deletions) at the Xq27.1 mutational hotspot. Genomic coordinates are based on the GRCh37/hg19 reference sequence.

Disease phenotype Additional phenotypic features Insertion sequence Insertion size and orientation Genes contained in insertion Additional accompanying rearrangements at Xq27.1 References
X-linked hypoparathyroidism (OMIM: #307700) N/A 2p25.3 ∼340 kb (Direct) SNTG2 (partial) ∼25 kb deletion Bowl et al. (2005)
X-linked hypoparathyroidism (OMIM: #307700) N/A 2p25.3 (Chr2: 856,644-903,578) ∼47 kb (Direct) Non-coding DNA only ∼1.5 kb deletion Taylor et al. (2015)
3 bp insertion
X-linked congenital generalized hypertrichosis (OMIM: #307150) N/A 4q31.22-q31.23 (Chr4: 148,464,548-148,764,583) ∼300 kb (Inverted) PRMT9 (full) 25 bp insertion Zhu et al. (2011)
TMEM184C (full)
ARHGAP10 (partial)
EDNRA (partial)
7 bp deletion a
X-linked congenital generalized hypertrichosis (OMIM: #307150) Scoliosis, spina bifida 5q35.3 (Chr5: 177,831,590-177,957,166) ∼126 kb (Direct) COL23A1 (partial) ∼1.3 kb deletion Zhu et al. (2011)
124 bp insertion (from Xq28)
2 bp insertion
X-linked congenital generalized hypertrichosis (OMIM: #307150) Deafness, dental/palate anomalies 6p21.2 (Chr6: 39,786,474-39,397,468) ∼389 kb (Inverted) KIF6 (partial) 56 bp insertion (from 3q21.2) DeStefano et al. (2013)
14 bp insertion
2 bp deletion
DAAM2 (partial)
X-linked congenital bilateral ptosis (OMIM: %300,245) N/A 1p21.3 (Chr1: 97,886,267-98,006,168) ∼120 kb (Direct) DPYD (partial) 7 bp duplication Bunyan et al. (2014)
427 bp duplication
Bilateral anophthalmia and XX sex reversal Neurological abnormalities, orbital teratoma 9q21 640 kb (Direct) TRPM3 (partial) 4 bp inversion Chou, (2012)
4 bp deletion
XX male sex reversal N/A 1q25.2—1q25.3 (Chr1: 180,243,986-181,017,783) ∼774 kb (Direct) ACBD6 (full) 9 bp insertion Haines et al. (2015)
XPR1 (full) 4 bp deletion
KIAA1614 (full)
STX6 (full)
OVAAL (full)
MIR3121 (full)
LHX4 (partial)
MR1 (partial)
Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 (OMIM: #302802) N/A 8q24.3 (Chr8:145,768,312–145,848,158) ∼78 kb (Direct) ARHGAP39 (partial) 19 bp insertion (from 12q13.12) Brewer et al. (2016)
12 bp inversion
1 bp deletion
1 bp single nucleotide variant
Rare X-linked recessive compound phenotype (genu varum, cubitus valgus, everted lips) N/A Xp22.33/Yp11.32 (ChrX: 628,417-733,365/ChrY: 578,417-683,365) ∼105 kb (Direct) Non-coding DNA only N/A Si et al. (2019)
Multiple congenital abnormalities N/A 9p22.3-9p22.2 (Chr9: 16,489,097-16,659,203) ∼170 kb (Inverted) BNC2 (partial) 4 bp deletion a Middelkamp et al. (2019)
X-linked congenital bilateral laryngeal abductor paralysis (Plott syndrome, OMIM: 308850) N/A 10q21.3 (Chr10: 65,948,754-66,352,777) ∼404 kb (Inverted) Non-coding DNA only ∼10 kb deletion Boschann et al. (2022)
59 bp insertion (from 10q21.3)
7 bp insertion
2 bp insertion
a

Deletion has been inferred based on the reported coordinates of the insertion breakpoints.

HHS Vulnerability Disclosure