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 journalArticle

7 Citations (Scopus)

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

Fingerprint

Nijmegen Breakage Syndrome
Imperforate Anus
Microcephaly
Chromosomal Instability
Mutation
Rhabdomyosarcoma
Growth
Population
Genes
Heart Diseases

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

657de15 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family. / Tekin, Mustafa; Doǧu, F.; Taçyildiz, N.; Akar, E.; Ikincioǧullari, A.; Oǧur, G.; Yavuz, G.; Babacan, E.; Akar, N.

In: Clinical Genetics, Vol. 62, No. 1, 01.07.2002, p. 84-88.

Research output: Contribution to journalArticle

Tekin, M, Doǧu, F, Taçyildiz, N, Akar, E, Ikincioǧullari, A, Oǧur, G, Yavuz, G, Babacan, E & Akar, N 2002, '657de15 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family', Clinical Genetics, vol. 62, no. 1, pp. 84-88. https://doi.org/10.1034/j.1399-0004.2002.620112.x
Tekin, Mustafa ; Doǧu, F. ; Taçyildiz, N. ; Akar, E. ; Ikincioǧullari, A. ; Oǧur, G. ; Yavuz, G. ; Babacan, E. ; Akar, N. / 657de15 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family. In: Clinical Genetics. 2002 ; Vol. 62, No. 1. pp. 84-88.
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