Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.
Am J Med Genet A. 2021 Apr;185(4):1317-1320. doi: 10.1002/ajmg.a.62058. Epub 2020 Dec 29.
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.
我们描述了一名患有额眶骨过度生长、宽鼻梁、小下颌、严重脊柱后凸侧凸、手部远端关节挛缩和第二和第三脚趾较长的斯里兰卡男性儿童。在细丝蛋白 A (FLNA) 基因的外显子 22 中发现了一个杂合致病性变异体 [NM_001110556.1：c.3557C>T；导致 FLNA 蛋白中丝氨酸被亮氨酸取代，位于密码子 1186；NP_001104026.1：p.Ser1186Leu]。该患者观察到的临床特征与额骨骨干发育不良 1 (FMD1) 的主要表现一致。然而，该患者没有出现先前与该病症相关的特征性骨骼外表现，如心脏缺陷、尿路病和听力损伤。
