De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.
Clin Genet
; 98(4): 374-378, 2020 10.
Article
en En
| MEDLINE
| ID: mdl-32627184
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.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Trombocitopenia
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Proteínas de Unión al GTP rap
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Discapacidad Intelectual
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Microcefalia
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
Límite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
Clin Genet
Año:
2020
Tipo del documento:
Article
País de afiliación:
Alemania