Work

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

Year: 2025

Type: article

Abstract: 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 by regulating the transcriptional program in the skeletal muscle. This is a reported case of an affected family with a noncoding, splice site SENP7 variant, expanding the spectrum of SENP7 as a causative gene in rare cases of lethal AMC.

Source: Clinical Genetics

DOI: 10.1111/cge.14698

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

Institutions: Brigham and Women's Hospital, Harvard University, Dartmouth College, Dartmouth–Hitchcock Medical Center, Dartmouth Health

Language: English

Topic: Congenital limb and hand anomalies

Subfield: Developmental Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W4406053308

FWCI: 1.82

Cites: 15

Cited by: 2

Related to: 10