Human mutation, 2009-03, Vol.30 (3), p.424-430
2009
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Details
- Autor(en) / Beteiligte
- Titel
- Fertility defects revealing germline biallelic nonsense NBN mutations
- Ist Teil von
- Human mutation, 2009-03, Vol.30 (3), p.424-430
- Ort / Verlag
- Hoboken: Wiley Subscription Services, Inc., A Wiley Company
- Erscheinungsjahr
- 2009
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Biallelic mutations in the NBN/NBS1 gene are the cause of Nijmegen breakage syndrome (NBS), a severe pediatric disease characterized by dysmorphy with a bird-like face, microcephaly, growth retardation, immune deficiency, and proneness to cancer. We here report two adult siblings that are compound heterozygotes for two previously unreported NBN nonsense mutations. These patients presented with the unique clinical symptom of fertility defects. Contrasting with the absence of any developmental abnormality, biological analyses revealed defects similar to those observed in NBS patients, including chromosomal instability, cellular hyperradiosensitivity and checkpoint defects as measured by radioresistant DNA synthesis (RDS). NBN mutations should thus be considered a new cause of infertility, and should be searched for if associated with the biological abnormalities of NBS. Hum Mutat 0, 1-7, 2008.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1059-7794eISSN: 1098-1004DOI: 10.1002/humu.20904Titel-ID: cdi_proquest_miscellaneous_66979195
- Format
- –
- Schlagworte
- Adult, Base Sequence, Blotting, Western, Cell Cycle Proteins - genetics, Cell Cycle Proteins - metabolism, Cell Line, Transformed, Codon, Nonsense, DNA Mutational Analysis, Female, Germ-Line Mutation, Heterozygote, Humans, infertility, Infertility - genetics, Infertility - metabolism, Infertility - pathology, Male, NBN, NBS, Nijmegen breakage syndrome, Nijmegen Breakage Syndrome - genetics, Nijmegen Breakage Syndrome - pathology, Nuclear Proteins - genetics, Nuclear Proteins - metabolism, premature ovarian failure, repair defect, Siblings