Duplication 2p25 in a child with clinical features of CHARGE syndrome. Issue 5 (6th February 2016)

• Record Type: Journal Article
• Authors: Sperry, Ethan D.; Schuette, Jane L.; van Ravenswaaij‐Arts, Conny M. A.; Green, Glenn E.; Martin, Donna M.
• Is Part Of: American journal of medical genetics. Volume 170:Issue 5(2016)
• Page Start: 1148
• Page End: 1154
• Publication Date: 2016-02-06
• Subjects: duplication 2p25 -- CHARGE syndrome -- trisomy 2p -- gene duplication; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37592
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : CHARGE syndrome is a dominant disorder characterized by ocular colobomata, heart defects, choanal atresia, retardation of growth and development, genital hypoplasia, and ear abnormalities including deafness and vestibular disorders. The majority of individuals with CHARGE have pathogenic variants in the gene encoding CHD7, a chromatin remodeling protein. Here, we present a 15‐year‐old girl with clinical features of CHARGE syndrome and a de novo 6.5 Mb gain of genomic material at 2p25.3–p25.2. The duplicated region contained 24 genes, including the early and broadly expressed transcription factor gene SOX11 . Analysis of 28 other patients with CHARGE showed no SOX11 copy number changes or pathogenic sequence variants. To our knowledge, this child's chromosomal abnormality is unique and represents the first co‐occurrence of duplication 2p25 and clinical features of CHARGE syndrome. We compare our patient's phenotype to ten previously published patients with isolated terminal duplication 2p, and elaborate on the clinical diagnosis of CHARGE in the context of atypical genetic findings. © 2016 Wiley Periodicals, Inc.