A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia

Abstract

Our data reveals that a recurrent mutation p.A88V in GJB6 played a pathogenic role in a large Chinese family and emphasizes the importance of gene test in this congenital disorder.

Pterygium and thinning of nails as an unusual manifestation in Clouston syndrome

“…1 Notably, in Asia the missense mutations p.Gly11Arg and p.Arg88Val have been found in large Chinese families and also de novo. 4 To the best of our knowledge, our case is the first Thai individual with Clouston syndrome to undergo molecular studies, although the same mutation p.Ala88Val has been reported in subjects from India, Malaysia, Wales and Japan (https://databases.lovd.nl/shared/variants/GJB6/unique). 1 Details of specific nail abnormalities in those reports are mostly lacking, apart from the Japanese case who had shedding of several fingernails, nail shortening and thickening with distal onycholysis, although that individual also had an additional heterozygous variant, p.Val27Ile, in a different gap junction protein, connexin 26.…”

GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family

“…A mouse model for HED carrying GJB6 mutation A88V revealed hyperproliferative and enlarged sebaceous glands as well as a mild palmoplantar hyperkeratosis . A88V was only reported in two Chinese families . Here, we report another one.…”

Novel clinical features associated with Clouston syndrome

“…Clouston syndrome (OMIM #129500), also known as hidrotic ectodermal dysplasia type 2, is a rare autosomal dominant ectodermal dysplasia . It is characterized by a triad of major features that include partial to complete hair loss, severe nail dystrophy, and palmoplantar hyperkeratosis with varying degrees of severity . In affected individuals, the hair is pale, fine, sparse, and grows very slowly, and total alopecia may occur.…”

“…Nail abnormalities are characterized by thickened, ridged, hyperconvex nails, and paronychia is frequently reported . The teeth, sweat, and sebaceous glands are normal . Additional clinical features include sensorineural deafness, hyperpigmentation of the skin over large joints, and eccrine syringofibroadenoma (Table ) …”

“…Heterozygous mutations in the gap junction beta 6 gene, ( GJB6 , OMIM #604418), which encodes the gap junction protein connexin 30 (Cx30), result in Clouston syndrome . Four heterozygous missense mutations (G11R, V37E, D50N, and A88V) account for the majority of Clouston syndrome cases .…”