A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child

Abstract

Ectodermal dysplasia-syndactyly syndrome is a rare autosomal recessive congenital disorder caused by mutations in PVRL4 coding for nectin-4. Five different mutations in the PVRL4 gene, including 3 homozygous missense mutations, have been reported. Here, we present an unreported missense variant (c.247C>T, p.His83Tyr) in a consanguineous Turkish family.

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review

“…In addition, a family with congenital alopecia has been described [ 18 ]. Similar to previous reports, our child had widely spaced teeth with conical-shaped crowns and enamel defects [ 4 , 6 , 16 , 17 , 18 , 19 , 20 ]. Moreover, orthopantomogram showed hypodontia, which has been previously described in a single family [ 18 ].…”

“…Her clinical presentation was unique in that she presented with minimal cutaneous syndactyly. A literature review identified three sporadic EDSS1 cases and six families with two or more affected members ( Table 1 ) [ 4 , 6 , 14 , 16 , 17 , 18 , 19 , 20 ]. The patients originated from Denmark, Turkey, Algeria, Italy, Afghanistan, Pakistan, Azad Jammu and Kashmir.…”

“…The patients originated from Denmark, Turkey, Algeria, Italy, Afghanistan, Pakistan, Azad Jammu and Kashmir. Consanguinity was reported in seven families [ 4 , 6 , 14 , 17 , 18 , 19 , 20 ]. A proximal bilateral cutaneous syndactyly of both fingers and toes was present in previous cases [ 4 , 14 , 17 , 18 , 19 , 20 ], with the exception of a girl who had involvement limited to toes [ 6 ].…”

“…Our patient had mild scalp hypotrichosis with fragile hair and sparse eyelashes and eyebrows. Hypotrichosis is a constant and early finding in EDSS1; it has a progressive course, which can lead to alopecia in adulthood [ 4 , 6 , 14 , 16 , 17 , 19 , 20 ]. In addition, a family with congenital alopecia has been described [ 18 ].…”

“…Moreover, orthopantomogram showed hypodontia, which has been previously described in a single family [ 18 ]. However, this finding might be underestimated as radiographic evaluation is not reported in other studies and some patients were children with deciduous dentition only [ 6 , 19 ]. Our patient also presented mild toenail dystrophy and palmoplantar hyperkeratosis, features variably present in EDSS1 [ 17 , 18 , 20 ].…”