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 |
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