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A novel truncating variant in the FGD1 gene associated with Aarskog–Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly
Author(s) -
Kessel Irena,
German Alina,
Peleg Amir,
GonzagaJauregui Claudia,
Paperna Tamar,
Ekhilevitch Nina,
Kurolap Alina,
Baris Feldman Hagit,
SagiDain Lena
Publication year - 2021
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.62401
Subject(s) - camptodactyly , exome sequencing , hypoplasia , genetic counseling , dysplasia , medicine , genetics , biology , gene , anatomy , mutation
Tel Hashomer camptodactyly syndrome is a long‐known entity characterized by camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases. Currently, the genetic basis for this disorder is unknown, thus there is a possibility that this clinical presentation may be contained within another genetic diagnosis. Here, we present a multiplex family with a previous clinical diagnosis of Tel Hashomer camptodactyly syndrome. Whole exome sequencing and pedigree‐based analysis revealed a novel hemizygous truncating variant c.269_270dup (p.Phe91Alafs*34) in the FGD1 gene (NM_004463.3) in all three symptomatic patients, congruous with a diagnosis of Aarskog–Scott syndrome. Our report adds to the limited data on Aarskog–Scott syndrome, and emphasizes the importance of unbiased comprehensive molecular testing toward establishing a diagnosis for genetic syndromes with unknown genetic basis.