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De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia
Author(s) -
Niemann Jan Hendrik,
Du Chen,
Morlot Susanne,
Schmidt Gunnar,
Auber Bernd,
Kaune Beate,
Göhring Gudrun,
Ripperger Tim,
Schlegelberger Brigitte,
Hofmann Winfried,
Smol Thomas,
AitYahya Emilie,
Raimbault Anna,
Lambilliotte Anne,
Petit Florence,
Steinemann Doris
Publication year - 2020
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13807
Subject(s) - missense mutation , genetics , microcephaly , gene , exome sequencing , germline , biology , compound heterozygosity , mutation
Abstract We present two independent cases of syndromic thrombocytopenia with multiple malformations, microcephaly, learning difficulties, dysmorphism and other features. Exome sequencing identified two novel de novo heterozygous variants in these patients, c.35G>T p.(Gly12Val) and c.178G>C p.(Gly60Arg), in the RAP1B gene (NM_001010942.2). These variants have not been described previously as germline variants, however functional studies in literature strongly suggest a clinical implication of these two activating hot spot positions . We hypothesize that pathogenic missense variants in the RAP1B gene cause congenital syndromic thrombocytopenia with a spectrum of associated malformations and dysmorphism, possibly through a gain of function mechanism.

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