Premium
Frontometaphyseal dysplasia 1 in a patient from Sri Lanka
Author(s) -
Dissanayake Ruwangi,
Senanayake Manouri P.,
Fernando Jerard,
Robertson Stephen P.,
Dissanayake Vajira H. W.,
Siriseirmala D.
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.62058
Subject(s) - flna , filamin , ectodermal dysplasia , medicine , dysplasia , anatomy , genetics , biology , dermatology , pathology , cytoskeleton , cell
A Sri Lankan male child with supraorbital hyperostosis, broad nasal bridge, small mandible, severe kyphoscoliosis, distal joint contractures of the hands and long second and third toes is described. A hemizygous pathogenic variant in exon 22 of the filamin A ( FLNA ) gene [NM_001110556.1: c.3557C>T; which leads to a nonsynonymous substitution of serine by leucine at codon 1186 in the FLNA protein; NP_001104026.1: p.Ser1186Leu] was identified. The clinical features observed in this patient were consistent with the cardinal manifestations seen in frontometaphyseal dysplasia 1 (FMD1). However, characteristic extra skeletal manifestations such as cardiac defects, uropathy, and hearing impairment which have previously been reported in association with this condition were absent in this patient.