Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.

Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Research Abstract Details 

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Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Abstract Text:

Hong-Yan Du,Elena Pumbo,Peter Manley,Joshua J Field,Susan J Bayliss,David B Wilson,Philip J Mason,Monica Bessler,Hong-Yan Du,Elena Pumbo,Peter Manley,Joshua J Field,Susan J Bayliss,David B Wilson,Philip J Mason,Monica Bessler,

Heterozygous mutations in the telomerase components TERT, the reverse transcriptase, and TERC, the RNA template, cause autosomal dominant dyskeratosis congenita due to telomere shortening. Anticipation, whereby the disease severity increases in succeeding generations due to inheritance of shorter telomeres, is a feature of this condition. Here we describe 2 families in which 2 TERT mutations are segregating. Both families contain compound heterozygotes. In one case the proband is homozygous for a novel mutation causing a P704S substitution, while his father's second allele encodes an H412Y mutation. The proband in the second family has mutant alleles Y846C and H876Q. Transfection studies show codominant expression of the mutated alleles with no evidence of a dominant negative effect or of intragenic complementation. Thus in these families the expression of both TERT alleles and the inherited telomere length contribute to the clinical phenotype.

Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Publishing Authors By Initials

HY Du,E Pumbo,P Manley,JJ Field,SJ Bayliss,DB Wilson,PJ Mason,M Bessler,HY Du,E Pumbo,P Manley,JJ Field,SJ Bayliss,DB Wilson,PJ Mason,M Bessler,

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Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Blood

VOLUME: 111

Page Numbers: 1128-30

Journal Abbreviation: Blood

ISSN: 0006-4971

DAY: 27

MONTH: 11

YEAR: 2007

Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Information

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LANGUAGE: eng

NlmUniqueID: 7603509

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