Table 3 SOX10 RSVs previously reported in WS patients in whom reproductive phenotypes were evident.

From: Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants

Sex

SOX10 variant

Key Waardenburg features

Reproductive phenotypes

Other phenotypes

Reference

M

chr22:38,202,740-38,927,438. 725-kb deletion of genomic material, includes 14 deleted genes including SOX10 (Het)

HL, DP

Cryptorchidism

Hexadactyly, broad nasal root, nystagmus, profound intellectual disability, hypotonia, delayed psychomotor development

38

M

c.697-740_1085del ins CCT

HL, HD, DP

Cryptorchidism

N/D

39

M

g.(17,712,505_17,716,229)_(17,929,647_17,933,832) del (Het) p.Val92Leu (Het)

HL, HD, DP, PN, CD

KS

Hypotonia, delayed psychomotor development, mild developmental disability

39

F

p.Pro169fs*284 (Het)

HL, DP

KS

N/D

32,33

M

p.Tyr313* (Het)

HL, HD, DP, PN, CD

nIHH

Delayed developmental milestones, nystagmus, hypotonia, cerebellar ataxia, autonomic heart dysregulation

13,40

  1. CD central demyelination, DP distinctive pigmentation (on body, hair, and/or eyes), Het heterozygous variant, HL  hearing loss, HD Hirschsprung disease, KS Kallmann syndrome, N/D not determined, nIHH normosmic idiopathic hypogonadotropic hypogonadism, PN peripheral neuropathy, WS Waardenburg syndrome.
Back to article page