Identification of a novel and a recurrent CDC45 variant in a Chinese family with Meier-Gorlin syndrome 7 and a literature review.

A novel CDC45 variant and a recurrent East Asian variant were identified in a Chinese MGORS7 patient, expanding the mutational spectrum of the disorder.

• Why it matters: Understanding genetic causes of MGORS7 is crucial for accurate diagnosis and potential treatment, especially given its clinical heterogeneity and rarity.
• What they did: Whole-genome and Sanger sequencing revealed two CDC45 variants in the patient, with functional assays showing one variant caused abnormal splicing; a literature review summarized 32 variants in 29 cases.
• The result: Growth hormone therapy showed initial growth improvement, suggesting a potential treatment avenue, while the study broadens knowledge of CDC45 mutations and their clinical implications.