ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia

PloS One
Małgorzata KurkowiakMichał Witt

Abstract

Primary ciliary dyskinesia (PCD) is a rare recessive disease with a prevalence of 1/10,000; its symptoms are caused by a kinetic dysfunction of motile cilia in the respiratory epithelium, flagella in spermatozoids, and primary cilia in the embryonic node. PCD is genetically heterogeneous: genotyping the already known PCD-related genes explains the genetic basis in 60-65% of the cases, depending on the population. While identification of new genes involved in PCD pathogenesis remains crucial, the search for new, population-specific mutations causative for PCD is equally important. The Slavs remain far less characterized in this respect compared to West European populations, which significantly limits diagnostic capability. The main goal of this study was to characterize the profile of causative genetic defects in one of the PCD-causing genes, ZMYND10, in the cohort of PCD patients of Slavic origin. The study was carried out using biological material from 172 unrelated PCD individuals of Polish origin, with no causative mutation found in nine major PCD genes. While none of the previously described mutations was found using the HRM-based screening, a novel frameshift mutation (c.367delC) in ZMYND10, unique for Slavic PCD populatio...Continue Reading

References

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Oct 30, 2014·Journal of Medical Genetics·Małgorzata KurkowiakMichał Witt

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Citations

Jun 20, 2018·ELife·Girish R MaliPleasantine Mill
Nov 12, 2016·The European Respiratory Journal·Jane S LucasClaudia E Kuehni
Apr 3, 2019·Journal of Neuropathology and Experimental Neurology·Pol Andrés-BenitoIsidro Ferrer
Mar 28, 2019·American Journal of Respiratory Cell and Molecular Biology·Ewa ZietkiewiczMichal Witt
Dec 11, 2019·International Journal of Molecular Sciences·Hanna Fabczak, Anna Osinka

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Methods Mentioned

BETA
transmission electron microscopy
biopsy
PCR
biopsies
genotyping

Software Mentioned

Fasta
SNPcheck
UMelt HETS
Adobe Creative Suite
UMelt
HRM
Isis
Primer3
Ensembl
Chromas

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