Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.
Eur J Med Genet
; 63(2): 103643, 2020 Feb.
Article
en En
| MEDLINE
| ID: mdl-30922925
ABSTRACT
Majewski Osteodysplastic Primordial Dwarfism type II (MOPDII) is a form of dwarfism associated with severe microcephaly, characteristic skeletal findings, distinct dysmorphic features and increased risk for cerebral infarctions. The condition is caused by bi-allelic loss-of-function variants in the gene PCNT. Here we describe the identification of a novel founder pathogenic variant c.3465-1Gâ¯>â¯A observed in carriers from multiple Druze villages in Northern Israel. RNA studies show that the variant results in activation of a cryptic splice site causing a coding frameshift. The study was triggered by the diagnosis of a single child with MOPDII and emphasizes the advantages of applying next generation sequencing technologies in community genetics and the importance of establishing population-specific sequencing databases.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Efecto Fundador
/
Predisposición Genética a la Enfermedad
/
Estudios de Asociación Genética
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Mutación
/
Antígenos
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adolescent
/
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Israel