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

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

Abstract 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 g...

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Bibliographic Details
Main Authors: Qing Li, Yichi Wu, Fucheng Meng, Zhuxi Li, Di Zhan, Xiaoping Luo
Format: Article
Language:English
Published: BMC 2024-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Meier–Gorlin syndrome
CDT1
Intronic mutation
Short stature
Growth hormone treatment
Online Access:https://doi.org/10.1186/s13023-024-03430-4

Internet

https://doi.org/10.1186/s13023-024-03430-4

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