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Peeling skin syndrome associated with novel variant in FLG2 gene
Author(s) -
Alfares Ahmed,
AlKhenaizan Sultan,
Al Mutairi Fuad
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38468
Subject(s) - genodermatosis , etiology , dermatology , medicine , loss function , genetics , medical genetics , gene , pathology , biology , phenotype
Peeling skin syndrome is a rare genodermatosis characterized by variably pruritic superficial generalized peeling of the skin with several genes involved until now little is known about the association between FLG2 and peeling skin syndrome. We describe multiple family members from a consanguineous Saudi family with peeling skin syndrome. Next Generation Sequencing identifies a cosegregating novel variant in FLG2 c.632C>G (p.Ser211*) as a likely etiology in this family. Here, we reported on the clinical manifestation of homozygous loss of function variant in FLG2 as a disease‐causing gene for peeling skin syndrome and expand the dermatology findings.