NDLI: Genotype-phenotype relationships in ataxia-telangiectasia and variants.

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Genotype-phenotype relationships in ataxia-telangiectasia and variants.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Galanty, Y. Chessa, L. Khosravi, R. Piane, M. Gatti, R. A. Jorgensen, T. J. Russell, P. Shiloh, Y. Gilad, S. Bar-Shira, A.
Description	Country affiliation: Israel Author Affiliation: Gilad S ( Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.)
Abstract	Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity, and cancer predisposition. A-T cells are sensitive to ionizing radiation and radiomimetic chemicals and fail to activate cell-cycle checkpoints after treatment with these agents. The responsible gene, ATM, encodes a large protein kinase with a phosphatidylinositol 3-kinase-like domain. The typical A-T phenotype is caused, in most cases, by null ATM alleles that truncate or severely destabilize the ATM protein. Rare patients with milder manifestations of the clinical or cellular characteristics of the disease have been reported and have been designated 'A-T variants.' A special variant form of A-T is A-TFresno, which combines a typical A-T phenotype with microcephaly and mental retardation. The possible association of these syndromes with ATM is both important for understanding their molecular basis and essential for counseling and diagnostic purposes. We quantified ATM-protein levels in six A-T variants, and we searched their ATM genes for mutations. Cell lines from these patients exhibited considerable variability in radiosensitivity while showing the typical radioresistant DNA synthesis of A-T cells. Unlike classical A-T patients, these patients exhibited 1%-17% of the normal level of ATM. The underlying ATM genotypes were either homozygous for mutations expected to produce mild phenotypes or compound heterozygotes for a mild and a severe mutation. An A-TFresno cell line was found devoid of the ATM protein and homozygous for a severe ATM mutation. We conclude that certain 'A-T variant' phenotypes represent ATM mutations, including some of those without telangiectasia. Our findings extend the range of phenotypes associated with ATM mutations.
ISSN	00029297
e-ISSN	15376605
Journal	The American Journal of Human Genetics
Issue Number	3
Volume Number	62
Language	English
Publisher	Cell Press (on behalf of American Society of Human Genetics)
Publisher Date	1998-03-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Ataxia Telangiectasia Genetics Protein-serine-threonine Kinases Ataxia Telangiectasia Mutated Proteins Blotting, Western Cell Cycle Proteins Cell Line Dna-binding Proteins Genotype Lymphocytes Radiation Effects Mutation Pedigree Phenotype Proteins Radiation Tolerance Tumor Suppressor Proteins Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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