In:
American Journal of Medical Genetics Part A, Wiley, Vol. 185, No. 4 ( 2021-04), p. 1317-1320
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v185.4
DOI:
10.1002/ajmg.a.62058
Language:
English
Publisher:
Wiley
Publication Date:
2021
detail.hit.zdb_id:
1493479-6
SSG:
12
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