FLJ14813 Missense Mutation: A Candidate for Autosomal Dominant Thrombocytopenia on Human Chromosome 10
MJ Gandhi, CL Cummings, JG Drachman - Human heredity, 2003 - karger.com
MJ Gandhi, CL Cummings, JG Drachman
Human heredity, 2003•karger.comThe gene for a novel nonsyndromic autosomal dominant thrombocytopenia has been
previously mapped to a region on human chromosome 10p11-12 (THC2, OMIM number*
188000). This disorder is characterized by moderate thrombocytopenia and incomplete
differentiation of megakaryocytes. We report here a novel missense mutation in the human
gene FLJ14813 that segregates perfectly with thrombocytopenia in our kindred of 51 family
members. The mutation is not detected in 94 random unrelated and unaffected individuals …
previously mapped to a region on human chromosome 10p11-12 (THC2, OMIM number*
188000). This disorder is characterized by moderate thrombocytopenia and incomplete
differentiation of megakaryocytes. We report here a novel missense mutation in the human
gene FLJ14813 that segregates perfectly with thrombocytopenia in our kindred of 51 family
members. The mutation is not detected in 94 random unrelated and unaffected individuals …
Abstract
The gene for a novel nonsyndromic autosomal dominant thrombocytopenia has been previously mapped to a region on human chromosome 10p11-12 (THC2, OMIM number *188000). This disorder is characterized by moderate thrombocytopenia and incomplete differentiation of megakaryocytes. We report here a novel missense mutation in the human gene FLJ14813 that segregates perfectly with thrombocytopenia in our kindred of 51 family members. The mutation is not detected in 94 random unrelated and unaffected individuals, nor is it reported in the Entrez single nucleotide polymorphism (SNP) database. A substitution of cytosine for guanidine (G to C) at nucleotide position 565 was present in all thrombocytopenic family members, causing a predicted substitution of aspartic acid for glutamic acid (E167D) in exon four.
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