CHARGE syndrome in nine patients from China. Issue 1 (15th November 2019)

• Record Type: Journal Article
• Authors: Cheng, Shirley S. W.; Luk, Ho‐Ming; Chan, David K. H.; Lo, Ivan F. M.
• Is Part Of: American journal of medical genetics. Volume 182:Issue 1(2020)
• Page Start: 15
• Page End: 19
• Publication Date: 2019-11-15
• Subjects: CHARGE syndrome -- CHD7 -- Chinese -- phenotype; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61398
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: CHARGE syndrome (CS) is a multiple congenital anomalies condition with the majority of cases caused by dominant loss‐of‐function mutations of the CHD7 gene. It is clinically characterized by c oloboma of the eyes, h eart defects, choanal a tresia, r etardation of growth and/or development, g enital and/or urinary anomalies and e ar malformations associated with deafness and vestibular disorder(s). This case series reported nine molecularly confirmed Chinese CS patients from nine unrelated families in Hong Kong. Clinical phenotype and facial features of these nine Chinese CS patients together with four previously reported Chinese patients were reviewed. Typical presentations like coloboma and choanal atresia were not universally present. The prevalence of choanal atresia in these Chinese CS patients was found to be significantly lower than that in previous cohorts of other ethnic groups. This report highlighted the existence of phenotypic variation of CS among different ethnicities and suggested that a high index of suspicion is necessary for diagnosis of CS in Chinese patients.