657de15 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family

Mustafa Tekin, F. Doǧu, N. Taçyildiz, E. Akar, A. Ikincioǧullari, G. Oǧur, G. Yavuz, E. Babacan, N. Akar

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

We report on a consanguineous Turkish family whose first son died of anal atresia and whose second son presented with severe pre- and postnatal growth retardation as well as striking microcephaly, immunodeficiency, congenital heart disease, chromosomal instability and rhabdomyosarcoma in the anal region. The proband was found to carry the homozygous 657del5 mutation in the NBS1 gene, which is responsible for Nijmegen breakage syndrome (NBS) in most of the Slav populations. Our family, the first diagnosed with NBS in the Turkish population, represents one of the most severely affected examples of the syndrome, with profound pre- and post-natal growth retardation associated with structural abnormalities, and expands the clinical spectrum of this rare disorder.

Original languageEnglish (US)
Pages (from-to)84-88
Number of pages5
JournalClinical Genetics
Volume62
Issue number1
DOIs
StatePublished - Jul 1 2002
Externally publishedYes

Keywords

  • Anal atresia
  • Chromosomal instability
  • Congenital heart disease
  • Immunodeficiency
  • NBS1 gene
  • Rhabdomyosarcoma

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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