Gene: [11q2/ATM] ataxia telangiectasia mutated locus; ataxia telangiectasia, Louis-Bar syndrome; [AT1 ATA ATB ]
|
COM |
[1] The data on the localization of ATA in Chr 11 (Gatti-1988,1989)
are based on the results of estimation of the disease linkage with two
molecular markers, which was performed with the use of multivariate
segregation analysis (Sanal-1990).
[2] Gatti et al. (Gatti-1988) noted the existence of at least 4 clinically indistinguishable complementation groups (A, C, D, and E) among 80 affecteds (Jaspers-1985,1988)." |
|
PAT |
Ataxia-telangiectasia is characterized by progressive cerebellar ataxia and neuro-muscular complications, telangiectases, especially of the conjunctiva, immune dysfunction and proneness to sinopulmonary infection as well as an increased risk of malignancy." |
|
MUT |
A possibility exists that the mutant product of the ataxia telangiectasia (Louis-Bar) locus in Chr 11 affects the liability of some chromosomal regions (including certain segments in the long arm of Chr 14) to spontaneous and/or radiation-induced breakage. However, this does not mean that chr 14 also has a locus with similar functions, which lesions could cause ataxia telangiectasia-like syndrome." |
|
HET |
[1] The MIM catalogues include, though as a secondary markers (i.e.,
without assigning to a specific locus) two ataxia telangiectasia-like
syndromes: MIM:208910, that with generalized skin pigmentation and
early lethality, and MIM:208920 (see GEM:14q/ATLS).
[2] Hernandez et al. (Hernandez-1993) described a large family in which 2 adult cousins had AT with a somewhat milder clinical course than usual. Since genetic linkage analysis did 'not provide any evidence that the gene for AT in this family is located at 11q22-23, locus heterogeneity was suggested." |
|
HIS |
[1] Before the reports of Gatti-1988,1989, this locus was generally
assumed to be linked to chr 14, on the basis of numerous data on
association of ataxia telangiectasia (Louis-Bar) with the preferable
breakage in the long arm of chr 14. It was only the question of
precise regional localization of the gene that was discussed (see
GEM:14q/ATLS). HGM10 (1989) and MIM-90 accepted
the localization in chr
11, according to Gatti-1988,1989.
[2] The most complete (by the middle 1980s) review on the clinical genetic problems of ataxia telangiectasia is available in: Gatti RA, Swift M (eds), Ataxia-telangiectasia: genetics, neuropathology and immunology of a degenerative disease childhood, Alan R Liss, NY, 1985." |
|
PND |
Gatti-1993 reported prenatal genotyping in this disorder. They pointed out that although at least 5 complementation groups have been defined, linkage studies of more than 160 families from various parts of the world have failed to show linkage heterogeneity. The demonstrated complementation groups may represent different intragenic mutations or separate ataxia-telangiectasia genes clustered within the 11q22.3 region, neither of which would challenge the validity of linkage or haplotyping studies." |
|
REF |
MUT,LOC,CLO "Ambrose HJ &: Genomics, 21, 612-619, 1994 MAP,CYG "Aurias &: Hum Genet, 72, 22-24, 1986a MAP,CYG "Aurias &: Hum Genet, 72, 25-26, 1986b PAT "Bender &: Mutation Res, 150, 277-282, 1985a PAT "Bender &: Mutation Res, 152, 39-47, 1985b HIS,PHE "Boder, Sedgwick: Pediatrics, 21, 526-554, 1958 MUT,LOC,CLO "Borresen AL &: CCG, 58, 1955, 1991 MUT,LOC,CLO "Byrd PJ &: CCG, 58, 1956, 1991 MUT,LOC,CLO "Cherif D &: Hum Genet, 93, 1-6, 1994 LOC,LIN,MOL "Concannon &: AJHG, 46, 789-794, 1990 MUT,LOC,CLO "Cornelis F &: CCG, 58, 1957, 1991 PAT "Cornforth, Bedford: Science, 227, 1589-1591, 1985 PAT "Fiorilli &: J Clin Immunol, 3, 135-141, 1983 LOC,LIN,FOG "Foroud T &: AJHG, 49, N6, 1263-1269, 1991 PND,LIN "Gatti RA &: Lancet, 342, (Letter), 376, 1993 MUT,LOC,CLO "Gatti RA &: CCG, 58, 1959-1960, 1991 LOC,LIN,MOL "Gatti RA &: AJHG, 47, (Suppl), A179, 1990 LOC,LIN,MOL "Gatti RA &: J Cell Biochem Suppl, 13, (D), 13, 1989 LOC,LIN,MOL "Gatti RA &: Nature, 336, 577-580, 1988 LOC,LIN,MOL "Gatti RA &: Dis Markers, 5, 207-213, 1987 PAT,MUT,POG "Gilad S &: Hum Mol Genet, 5, 433-439, 1996 HET "Hernandez D &: J Med Genet, 30, 135-140, 1993 MUT,LIN "Hernandez D &: CCG, 58, 1962-1963, 1991 PAT "Jaspers, Bootsma: PNAS, 79, 2641-2644, 1982 PAT "Johnson JP &: AJHG, 39, 787-796, 1986 MAP,CYG "Kennaugh AA &: Hum Genet, 73, 254-259, 1986 MAP,CYG "Komatsu &: Mutation Res, 235, 59-63, 1990 PAT,LOC "Laderoute MP &: Immunol Today, 11, 230, 1990 MUT,LOC "Lambert C &: PNAS, 88, 5907-5911, 1991 MUT,LOC,CLO "Lench NJ &: CCG, 58, 1965-1966, 1991 LIN,FAG,CLO "Leonhardt EA &: Genomics, 19, 130-136, 1994 PAT,MUT,POG "McConville CM &: AJHG, 59, 320-330, 1996 MUT,LOC,CLO "McConville CM &: Hum Mol Genet, 2, 969-974, 1993 MUT,LOC,CLO "McConville CM &: CCG, 58, 1967, 1991 MAF,MAG "McConville CM &: Hum Genet, 85, 215-220, 1990a MAF,MAG "McConville CM &: NAR, 18, 4335-4343, 1990b HIS,PHE "McFarlin &: Medicine, 51, 281-314, 1972 MUT,LOC,CLO "Meyn MS &: AJHG, 53, 1206-1216, 1993 PAT "Mohamed &: BBRC, 149, 233-238, 1987 PAT "Paterson, Smith: Annu Rev Genet, 13, 291-318, 1979 PAT "Rosin, Ochs: Hum Genet, 74, 335-340, 1986 MUT,LOC,CLO "Rotman G &: Genomics, 24, 234-242, 1994 LOC,LIN,MOL,MUT "Sanal O &: FASEB J, 6, 2848-2852, 1992 LOC,LIN,MOL "Sanal O &: AJHG, 47, N5, 860-866, 1990 COD,SEQ,EVO "Savitsky K &: Hum Mol Genet, 4, 2025-2032, 1995a IDN,GEN "Savitsky K &: Science, 268, 1749-1753, 1995b PAT "Shaham, Becker: Hum Genet, 58, 422-424, 1981 LOC,LIN,MOL "Shiloh &: AJHG, 45, A161, 1989 LOC,LIN,FAG,MUT "Sobel E &: AJHG, 50, (Letter), 1343-1348, 1992 MAP,CYG "Stern MH &: Hum Genet, 78, 33-36, 1988a MAP,CYG "Stern MH &: Hum Genet, 81, 18-22, 1988b FOG,POG "Swift &: AJHG, 39, 573-583, 1986 HIS,PHE "Tadjoedin, Fraser: Am J Dis Child, 110, 64-68, 1965 PAT "Taylor AM &: J Med Genet, 24, 669-677, 1987 MUT,LOC,CLO "Uhrhammer N &: Genomics, 20, 278-280, 1994 MUT,LOC,CLO "Vanagaite L &: Hum Genet, 95, 451-454, 1995 MUT,LOC,CLO "Vanagaite L &: Genomics, 22, 231-233, 1994 PAT "Waldmann &: Ann Int Med, 99, 367-379, 1983 MAF,MAG "Wei S &: Cancer Genet Cytogenet, 46, N1, 1-8, 1990 MUT,LIN "Ziv Y &: Genomics, 9, 373-375, 1991 |
|
KEY |
onc, neu, derm, card |
|
CLA |
coding, basic |
|
LOC |
11 q22-23 |
|
MIM |
MIM: 208900 |
|
SYN |
AT1 ATA ATB |
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