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Article

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.

The Yale journal of biology and medicine - 1 Sept 2023

Shahid Hamna, Shakoor Nazish, Bibi Anisa, Qazi Asma Saleem, Saeed Rida Fatima, Nawaz Aqeela, Malik Sajid, Mumtaz Sara

Abstract excerpt

Spondylocarpotarsal synostosis (SCT) syndrome is a very rare and severe form of skeletal dysplasia. The hallmark features of SCT are disproportionate short stature, scoliosis, fusion of carpal and tarsal bones, and clubfoot. Other common manifestations are cleft palate, conductive and sensorineural hearing loss, joint stiffness, and dental enamel hypoplasia. Homozygous variants in FLNB are known to cause SCT....

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Identifiers

PMID: 37781000
DOI: 10.59249/UTCP9818
PMCID: PMC10524816

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Source receipt: pubmed, retrieved 7 Sept 2026.

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