@article{f2d69fa71d584d9b94087048e6fb3f72,
title = "Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population",
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.",
keywords = "Druze, Founder, Microcephalic primordial dwarfism, PCNT",
author = "Karin Weiss and Nina Ekhilevitch and Lior Cohen and Sharon Bratman-Morag and Rachel Bello and Martinez, {Ariel F.} and Yarin Hadid and Shlush, {Liran I.} and Alina Kurolap and Tamar Paperna and Adi Mory and Baris, {Hagit N.} and Maximilian Muenke",
note = "Funding Information: We are thankful to the families for consenting to participate in this publication. The NIH Intramural Sequencing Center (NISC) conducted the sequencing experiment in one of the probands. This work was supported by the intramural program of the National Human Genome Research Institute, NIH. Dr. Karin Weiss is supported by The Clinical Research Institute at Rambam. Funding Information: We are thankful to the families for consenting to participate in this publication. The NIH Intramural Sequencing Center (NISC) conducted the sequencing experiment in one of the probands. This work was supported by the intramural program of the National Human Genome Research Institute, NIH . Dr. Karin Weiss is supported by The Clinical Research Institute at Rambam. Publisher Copyright: {\textcopyright} 2019 Elsevier Masson SAS",
year = "2020",
month = feb,
day = "1",
doi = "10.1016/j.ejmg.2019.03.007",
language = "English",
volume = "63",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier Masson SAS",
number = "2",
}