脊柱颅底融合综合征因新型功能丧失型 FLNB 变异所致：一例病例报告。
Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.
机构信息
School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, Punjab, Pakistan.
Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
出版信息
BMC Musculoskelet Disord. 2021 Jan 6;22(1):31. doi: 10.1186/s12891-020-03890-2.
BACKGROUND
Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB homozygous pathogenic variant and present a carrier of the variant with short height.
CASE PRESENTATION
We describe a family with five patients affected with skeletal malformations, short stature and vertebral deformities. Exome sequencing revealed a novel homozygous frameshift variant c.2911dupG p.(Ala971GlyfsTer122) in FLNB, segregating with the phenotype in the family. The variant was absent in public databases and 100 ethnically matched control chromosomes. One of the heterozygous carriers of the variant had short stature.
CONCLUSION
Our report expands the genetic spectrum of FLNB pathogenic variants. It also indicates a need to assess the heights of other carriers of FLNB recessive variants to explore a possible role in idiopathic short stature.
背景
细丝蛋白 B（FLNB）的功能丧失或获得功能变异分别导致隐性或显性骨骼疾病。脊柱颅底骨融合综合征（SCT）是一种罕见的常染色体隐性疾病，其特征为身材矮小、椎体融合以及腕骨和跗骨融合。我们提出了一种新的 FLNB 纯合致病性变异，并报告了一名该变异携带者的身高偏矮情况。
病例介绍
我们描述了一个有五名患者的家族，他们均患有骨骼畸形、身材矮小和椎体畸形。外显子组测序显示 FLNB 中存在一个新的纯合移码变异 c.2911dupG p.(Ala971GlyfsTer122)，该变异在家族中与表型共分离。该变异不存在于公共数据库和 100 个匹配的对照染色体中。该变异的一名杂合携带者身高偏矮。
结论
我们的报告扩展了 FLNB 致病性变异的遗传谱。它还表明需要评估其他 FLNB 隐性变异携带者的身高，以探索其在特发性身材矮小中的可能作用。
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