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Am J Med Genet A. 2019 Aug 9. doi: 10.1002/ajmg.a.61323. [Epub ahead of print]

Coffin-Lowry syndrome in Chinese.

Author information

1
Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong.
2
Clinical Genetic Service, Department of Health, Hong Kong.

Abstract

Coffin-Lowry syndrome (CLS) is a well-described syndrome characterized by intellectual disability, growth retardation, recognizable dysmorphic features, and skeletal changes. It is an X-linked syndrome where males are more severely affected and females have high variability in clinical presentations. This case series reports nine molecularly confirmed Chinese CLS patients from six unrelated families (three with familial variants and three with de novo variants). There is a wide genotypic spectrum with five novel variants in RPS6KA3 gene. Clinical phenotype and facial features of these Chinese CLS patients are comparable to what has been described in other ethnicities.

KEYWORDS:

RPS6KA3; Chinese; Coffin-Lowry syndrome

PMID:
31400053
DOI:
10.1002/ajmg.a.61323

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