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First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction
Author(s) -
DíazGonzález Francisca,
ParrónPajares Manuel,
BarciaRamirez Ana,
Heath Karen E.
Publication year - 2020
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.61480
Subject(s) - syndactyly , missense mutation , frameshift mutation , compound heterozygosity , dysplasia , medicine , pathology , genetics , anatomy , biology , mutation , gene
Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) is an extremely rare autosomal recessive limb abnormality characterized by the fusion of third and fourth fingers. To date, only homozygous missense and frameshift mutations have been reported in BHLHA9 associated to MSSD. In this study, we report a patient who presented with clinical and radiological features of MSSD. A customized skeletal dysplasia NGS panel revealed the presence of two novel compounds heterozygous variants in BHLHA9 : NM_001164405.1: c.[226A>T][269G>C]; p.[(Lys76*)][(Arg90Pro)]. Thus, this is the first case of MSSD in a nonconsanguineous family.