Coffin-Lowry syndrome in Chinese

Area of Science:

• Genetics
• Clinical Medicine
• Rare Diseases

Background:

• Coffin-Lowry syndrome (CLS) is an X-linked genetic disorder.
• Characterized by intellectual disability, growth retardation, dysmorphic features, and skeletal abnormalities.
• Males typically exhibit more severe symptoms than females, who present with variable clinical manifestations.

Observation:

• A case series of nine genetically confirmed Chinese patients with Coffin-Lowry syndrome from six families.
• Three families had familial variants, and three had de novo variants.
• Analysis revealed a broad genotypic spectrum, including five previously undescribed variants in the RPS6KA3 gene.

Findings:

• The identified variants in the RPS6KA3 gene contribute to the genotypic diversity of Coffin-Lowry syndrome.
• Clinical phenotypes and characteristic facial features in the Chinese cohort align with previous descriptions in other ethnic groups.
• This study expands the known mutational landscape of CLS.

Implications:

• Highlights the importance of genetic testing for RPS6KA3 in diagnosing Coffin-Lowry syndrome.
• Suggests that CLS genetic and phenotypic profiles are conserved across diverse populations.
• Provides valuable data for understanding the genotype-phenotype correlation in Coffin-Lowry syndrome and aids in genetic counseling.