ArticleAmerican journal of medical genetics. Part A2016
Duplication 2p25 in a child with clinical features of CHARGE syndrome.
Article in American journal of medical genetics. Part A, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 12 citations in OpenAlex.
- Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing loss.American journal of medical genetics. Part A · 2023Article
- [Copy number variation and parental consanguinity elevated in newborns of high altitude with major congenital anomalies in Perú].Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina) · 2022Article
- Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report.BMC ophthalmology · 2022Article
- Eyes on CHARGE syndrome: Roles of CHD7 in ocular development.Frontiers in cell and developmental biology · 2022Review
- Fetal Cystic Hygroma Associated with Terminal 2p25.1 Duplication and Terminal 3p25.3 Deletion: Cytogenetic, FluorescentBalkan journal of medical genetics : BJMG · 2020Article
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
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.
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