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Article

A Splice Site Variant in SENP7 Results in a Severe Form of Arthrogryposis.

Clinical genetics - 1 Jun 2025

Kotecha Udhaya, Kim Euri S, Shah Parth S, Shah Nidhi, Gupta Vandana A

Abstract excerpt

Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder associated with 1/3000 to 1/5000 live births. We report a consanguineous family with multiple affected members with AMC and identified a recessive mutation in the highly conserved splice donor site, resulting in the mis-splicing of the affected exons. SENP7 is a deSUMOylase that is critical for sarcomere assembly and skeletal muscle contraction...

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Identifiers

PMID: 39754459
DOI: 10.1111/cge.14698

Genes

SENP7

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