Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome
نویسندگان
چکیده
منابع مشابه
Nijmegen breakage syndrome (NBS)
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encountered most frequently among Slavic populations. The principal clinical manifestations of the syndro...
متن کاملSyndrome of the month Nijmegen breakage syndrome
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants VI and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The imm...
متن کاملMild Nijmegen breakage syndrome phenotype due to alternative splicing.
Hypomorphic mutations of the NBS1 gene are responsible for Nijmegen breakage syndrome (NBS), characterized by microcephaly, chromosomal instability, radiosensitivity, immunodeficiency and high cancer predisposition. Over 90% of NBS patients are homozygous for the 657Delta5 mutation and are of Slavic origin; however, 10 further truncating mutations have been identified in patients of other ethni...
متن کاملA Murine Model of Nijmegen Breakage Syndrome
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, immunodeficiency, and predisposition to hematopoietic malignancy. The clinical and cellular phenotypes of NBS substantially overlap those of ataxia-telangiectasia (A-T). NBS is caused by mutation of the NBS1 gene, which encodes a member of the Mre11 complex, a trimeric protein complex also con...
متن کاملDNA repair: The Nijmegen breakage syndrome protein
The gene mutated in Nijmegen breakage syndrome, a chromosome instability disorder, has been identified and sequenced. The protein product of this gene forms a complex with hMre11 and hRad50--proteins that are involved in repairing double-strand breaks in DNA.
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ژورنال
عنوان ژورنال: Aging
سال: 2020
ISSN: 1945-4589
DOI: 10.18632/aging.103453