Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population

Karin Weiss, Nina Ekhilevitch, Lior Cohen, Sharon Bratman-Morag, Rachel Bello, Ariel F. Martinez, Yarin Hadid, Liran I. Shlush, Alina Kurolap, Tamar Paperna, Adi Mory, Hagit N. Baris, Maximilian Muenke

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

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 languageEnglish
Article number103643
JournalEuropean Journal of Medical Genetics
Volume63
Issue number2
DOIs
StatePublished - 1 Feb 2020
Externally publishedYes

Keywords

  • Druze
  • Founder
  • Microcephalic primordial dwarfism
  • PCNT

Fingerprint

Dive into the research topics of 'Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population'. Together they form a unique fingerprint.

Cite this