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Article

Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism.

Journal of medical genetics - 19 Jul 2024

Chen Jianhai, Jia Yangying, Zhong Jie, Zhang Kun, Dai Hongzheng, He Guanglin, Li Fuping, Zeng Li, Fan Chuanzhu, Xu Huayan

Abstract excerpt

BACKGROUND: As one of the most common congenital abnormalities in male births, cryptorchidism has been found to have a polygenic aetiology according to previous studies of common variants. However, little is known about genetic predisposition of rare variants for cryptorchidism, since rare variants have larger effective size on diseases than common variants. METHODS: In this study, a cohort of 115 Chinese...

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Source

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Identifiers

PMID: 38621993
DOI: 10.1136/jmg-2024-109896
PMCID: PMC11287555

Genes

DMD
ARSH
BCORL1
KDM6A
MAGEA4
SHROOM2
UBA1
USP9Y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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