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  Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.

Dutrannoy, V., Demuth, I., Baumann, U., Schindler, D., Konrat, K., Neitzel, H., et al. (2010). Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. Human Mutation, 31(9), 1059-1068. doi:10.1002/humu.21315.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-7AC0-E Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-7AC1-C
Genre: Journal Article
Alternative Title : Hum Mutat

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Dutrannoy, V.1, Author
Demuth, I., Author
Baumann, U., Author
Schindler, D., Author
Konrat, K., Author
Neitzel, H.1, Author
Gillessen-Kaesbach, G., Author
Radszewski, J., Author
Rothe, S.1, Author
Schellenberger, M. T., Author
Nurnberg, G., Author
Nurnberg, P., Author
Teik, K. W., Author
Nallusamy, R., Author
Reis, A., Author
Sperling, K., Author
Digweed, M.1, Author
Varon, R.1, Author
Affiliations:
1Max Planck Society, ou_persistent13              

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Free keywords: Nijmegen Breakage Syndrome-like; NBS; microcephaly; NHEJ1 gene; clinical variability
 Abstract: We have previously shown that mutations in the genes encoding DNA Ligase IV (LIGIV) and RAD50, involved in DNA repair by nonhomologous-end joining (NHEJ) and homologous recombination, respectively, lead to clinical and cellular features similar to those of Nijmegen Breakage Syndrome (NBS). Very recently, a new member of the NHEJ repair pathway, NHEJ1, was discovered, and mutations in patients with features resembling NBS were described. Here we report on five patients from four families of different ethnic origin with the NBS-like phenotype. Sequence analysis of the NHEJ1 gene in a patient of Spanish and in a patient of Turkish origin identified homozygous, previously reported mutations, c.168C>G (p.Arg57Gly) and c.532C>T (p.Arg178Ter), respectively. Two novel, paternally inherited truncating mutations, c.495dupA (p.Asp166ArgfsTer20) and c.526C>T (p.Arg176Ter) and two novel, maternal genomic deletions of 1.9 and 6.9 kb of the NHEJ1 gene, were found in a compound heterozygous state in two siblings of German origin and in one Malaysian patient, respectively. Our findings confirm that patients with NBS-like phenotypes may have mutations in the NHEJ1 gene including multiexon deletions, and show that considerable clinical variability could be observed even within the same family.

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Language(s): eng - English
 Dates: 2010-07-01
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 539705
URI: http://www.ncbi.nlm.nih.gov/pubmed/20597108
DOI: 10.1002/humu.21315
 Degree: -

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Title: Human Mutation
  Alternative Title : Hum Mutat
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 31 (9) Sequence Number: - Start / End Page: 1059 - 1068 Identifier: ISSN: 1059-7794