Gene: [14q/ATLS] ataxia-telangiectasia-like syndrome?; [AT ]


COM

[1] On the basis of numerous data on association of ataxia telangiectasia (Louis-Bar) with the preferable breakage in the long arm of Chr 14, this locus was generally assumed to be linked with Chr 14 (Aurias-1986a,b and others). It was only the question of precise regional localization of the gene that was discussed (see GEM:14q112/TCL4 and GEM:14q321/TCL1).
[2] The GDB and MIM catalogues accepted the localization in Chr 11, according to Gatti-1988/89. These data 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 in families (Sanal-1990). 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, it cannot be excluded that Chr 14 also has a locus, which lesions could cause ataxia telangiectasia-like syndrome."

HET

[1] Two AT-like syndromes (not mapped) are registered in OMIM Catalogue: MIM:208910 - AT with generalized skin pigmentation and early death; MIM:208920 - AT-like syndrome.
[2] See also GEM:11q2/ATM[:HET]."

REF

LOC,MAP "Aurias &: Hum Genet, 72, 22-24, 1986a
LOC,MAP "Aurias &: Hum Genet, 72, 25-26, 1986b
LOC,MAP "Kennaugh AA &: Hum Genet, 73, 254-259, 1986
MOD,CYG,ENG "Lohrer &: Mol Gen Genet, 212, 474-480, 1988
PAT,CYG "Peterson, Funkhouser: New Engl J Med, 322, 124-125, 1989
LIN,CYG,MOL "Russo G &: PNAS, 86, N2, 602-609, 1989
LOC,MAP "Stern MH &: Hum Genet, 78, 33-36, 1988a
LOC,MAP "Stern MH &: Hum Genet, 81, 18-22, 1988b
LOC,MAP "Zhang F &: Hum Genet, 78, 316-319, 1988
LOC,MAP "see also GEM:11q2/ATM

KEY

hem, onc, neu, derm

CLA

unknown, basic

LOC

14 q11.2 ? q32.1

MIM

MIM: 208900?

SYN

AT

鸯铗痂蝈 蜞赕:

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