A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family

Developmental nail disorders are heterogeneous group of genodermatosis, with nonsyndromic congenital nail disorder (NDNC) being a rare subgroup inherited in autosomal dominant or autosomal recessive pattern. These are classified into ten different types (NDNC1-10), which are described in OMIM.1 The genes described for isolated nail disorders include PLCD1 (MIM 602142), RSPO4 (MIM 610573), FZD6 (MIM 603409), COL7A1 (MIM 120120), HPGD (MIM 601688) and SLCO2A1 (MIM 601460). In Addition, two other loci for NDNC have been mapped on chromosome 17p13 and 17q25.1-17q25.3.1, 2 This article is protected by copyright. All rights reserved.