Dataset Information
Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.
Ontology highlight
ABSTRACT: 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.
SUBMITTER: Yasin S
PROVIDER: S-EPMC7789006 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
Publications
Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.
BMC musculoskeletal disorders 20210106 1
<h4>Background</h4>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.<h4>Case presentation</h4>We describe a family with five patients affecte ...[more]