Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Leucocytes Mutation load Declines with Age in Carriers of the m.3243A>G Mutation. A 10-year Prospective Cohort

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Correction: Educational delay and attainment in persons with neurofibromatosis 1 in Denmark

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

    Publikation: Bidrag til tidsskriftLetterForskningpeer review

  3. The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer
Husu E, Hove HD, Farholt S, Bille M, Tranebjaerg L, Vogel I, Kreiborg S. Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome. CHARGE (coloboma of the eye, heart defects, choanal atresia, retarded growth and development, genital hypoplasia and ear anomalies and/or hearing loss) syndrome is a rare genetic, multiple-malformation syndrome. About 80% of patients with a clinical diagnose, have a mutation or a deletion in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7). Genotype-phenotype correlation is only partly known. In this nationwide study, phenotypic characteristics of 18 Danish CHD7 mutation positive CHARGE individuals (N = 18) are presented. We studied patient records, clinical photographs, computed tomography, and magnetic resonance imaging (MRI). Information was not available for all traits in all subjects. Therefore, the results are presented as fractions. The following prevalence of cardinal symptoms were found: coloboma, 16/17; heart defects, 14/18; choanal atresia, 7/17; retarded growth and development, 11/13; genital abnormalities, 5/18; ear anomalies, 15/17 and sensorineural hearing loss, 14/15. Vestibular dysfunction (10/13) and swallowing problems (12/15) were other frequent cranial nerve dysfunctions. Three-dimensional reconstructions of MRI scans showed temporal bone abnormalities in >85%. CHARGE syndrome present a broad phenotypic spectrum, although some clinical features are more frequently occurring than others. Here, we suggest that genetic testing for CHD7 mutation should be considered in neonates with a specific combination of several clinical symptoms.
OriginalsprogEngelsk
TidsskriftClinical Genetics
Vol/bind83
Udgave nummer2
Sider (fra-til)125-134
Antal sider10
ISSN0009-9163
DOI
StatusUdgivet - 2013

ID: 36821801