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

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KEY

onc, neu, derm, card

CLA

coding, basic

LOC

11 q22-23

MIM

MIM: 208900

SYN

AT1 ATA ATB

鸯铗痂蝈 蜞赕:

  • ATM 缅
  • 缅礤蜩麇耜 礤耱噌桦铖螯, 忸琊囫 铖豚犭屙桢 疱镟疣鲨 耐
  • Gene: [11q2/ATDC] ataxia telangiectasia (complementation group D); [ATD ]
  • Gene: [11q21/CLA1] cerebellar ataxia 1 (autosomal recessive); [CPD3 ]