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CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

På svenska

Author

  • J Wincent
  • E Holmberg
  • K Stromland
  • Maria Soller
  • L Mirzaei
  • T Djureinovic
  • K L Robinson
  • B M Anderlid
  • J Schoumans

Summary, in English

CHARGE syndrome is a disorder characterized by Coloboma, Heart defect, Atresia choanae, Retarded growth and/or development, Genital hypoplasia and Ear anomalies. Heterozygous mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene have been identified in about 60% of individuals diagnosed with CHARGE syndrome. We performed a CHD7 mutation screening by direct exon sequencing in 28 index patients (26 sporadic cases, 1 familial case consisting of a brother and sister and 1 case consisting of monozygotic twins) diagnosed with CHARGE syndrome in order to determine the mutations in a cohort of Swedish CHARGE syndrome patients. The patients without a detectable CHD7 mutation, or with a missense mutation, were further investigated by multiplex ligation-dependent probe amplification (MLPA) in order to search for intragenic deletions or duplications. Thirteen novel mutations and five previously reported mutations were detected. The mutations were scattered throughout the gene and included nonsense, frameshift and missense mutations as well as intragenic deletions. In conclusion, CHD7 mutations were detected in a large proportion (64%) of cases diagnosed with CHARGE syndrome. Screening for intragenic deletions with MLPA is recommended in cases where mutations are not found by sequencing. In addition, a CDH7 mutation was found in an individual without temporal bone malformation.

Publishing year

2008

Language

English

Pages

31-38

Publication/Series

Clinical Genetics

Volume

74

Issue

1

Document type

Journal article

Publisher

Wiley-Blackwell

Topic

  • Medical Genetics

Keywords

  • MLPA
  • deletion
  • CHARGE syndrome
  • CHD7
  • mutation

Status

Published

ISBN/ISSN/Other

  • ISSN: 0009-9163