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GLI3 ‐related polydactyly: a review
Author(s) -
AlQattan M.M.,
Shamseldin H.E.,
Salih M.A.,
Alkuraya F.S.
Publication year - 2017
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12952
Subject(s) - polydactyly , gli3 , medicine , genetics , dermatology , anatomy , biology , gene , repressor , transcription factor
GLI3 mutations are known to be associated with nine syndromes/conditions in which polydactyly is a feature. In this review, the embryology, pathogenesis, and animal models of GLI3 ‐related polydactyly are discussed first. This is followed by a detailed review of the genotype–phenotype correlations. Based on our review of the literature and our clinical experiences, we recommend viewing GLI3 ‐related syndromes/conditions as four separate entities; each characterized by a specific pattern of polydactyly. These four entities are: the preaxial polydactyly type IV ‐Greig‐acrocallosal spectrum, postaxial polydactyly types A/B, Pallister–Hall syndrome ( PHS ), and oral‐facial‐digital overlap syndrome. We also provide illustrative clinical examples from our practice including a family with a novel GLI3 mutation causing PHS . The review also introduces the term ‘ Forme Fruste ’ preaxial polydactyly and gives several conclusions/recommendations including the recommendation to revise the current criteria for the clinical diagnosis of PHS .