Coffin–Lowry syndrome in Chinese. Issue 10 (9th August 2019)

• Record Type: Journal Article
• Authors: Fung, Jasmine L. F.; Rethanavelu, Kavitha; Luk, Ho‐ming; Ho, Matthew S. P.; Lo, Ivan F. M.; Chung, Brian H. Y.
• Is Part Of: American journal of medical genetics. Volume 179:Issue 10(2019)
• Page Start: 2043
• Page End: 2048
• Publication Date: 2019-08-09
• Subjects: Chinese -- Coffin–Lowry syndrome -- RPS6KA3; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61323
• Languages: English
• ISSNs: 1552-4825

Abstract

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.