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.3465-1G > 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.
Original language | English |
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Article number | 103643 |
Number of pages | 4 |
Journal | European Journal of Medical Genetics |
Volume | 63 |
Issue number | 2 |
Early online date | 25 Mar 2019 |
DOIs | |
State | Published - 1 Feb 2020 |
Keywords
- Druze
- Founder
- Microcephalic primordial dwarfism
- PCNT
All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)