Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10

Table 1

Summary of clinical findings in patients with SOX10 c.481C>T (p.R161C) mutation.

Patient	IV-1	III-1	II-1	Marcos et al.[32]	Bademci et al.[41]
Age	7 y	34 y	60 y	n.d.	9 y; 11 y
Gender	F	M	F	n.d.	F; M
Hearing loss/inner ear imaging
Hearing loss	Profound	—	Profound	n.d.	Profound
Abnormal semicircular canal	Post. SCC dilatation	NA	NA	n.d.	n.d.
Pigmentation defects
Pigmentary disturbances of iris	—	—	—	n.d.	n.d.
Iris heterochromia	—	—	—	n.d.	n.d.
Skin depigmentation	—	—	—	n.d.	n.d.
White forelock	—	+	+	n.d.	n.d.
Premature graying	—	+	+	n.d.	n.d.
Eye anomalies
Telecanthus	—	—	—	n.d.	n.d.
Retinal pigmentation defect	—	—	—	n.d.	n.d.
Gastrointestine
Constipation	—	—	—	n.d.	n.d.
Hirschsprung disease	—	—	—	n.d.	n.d.
Hypogonadotropic hypogonadism	—	—	—	+	n.d.
Delayed puberty	NA	—	—	+	n.d.
Anosmia or severe hyposmia	—	—	—	+	n.d.
Genetic
SOX10 mutation	c.481C>T	c.481C>T	c.481C>T	c.481C>T	c.481C>T

n.d.: not described; NA: not applicable; y: year.