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Article

A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.

Orphanet journal of rare diseases - 18 Dec 2024

Li Qing, Wu Yichi, Meng Fucheng, Li Zhuxi, Zhan Di, Luo Xiaoping

Abstract excerpt

BACKGROUND: Meier-Gorlin syndrome (MGORS) is a rare autosomal inherited form of primordial dwarfism. Pathogenic variants in 13 genes involved in DNA replication initiation have been identified in this disease, but homozygous intronic variants have never been reported. Additionally, whether growth hormone (GH) treatment can increase the height of children with MGORS is unclear. METHODS: The medical history data of...

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Identifiers

PMID: 39789585
DOI: 10.1186/s13023-024-03430-4
PMCID: PMC11715027

Genes

CDT1

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