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Multi affected pedigree with congenital microcephaly: WES revealed PNKP gene mutation
Authors
M. Beiraghi Toosi
M. Entezam
+3 more
M. Keramatipour
M. Razipour
S. Talebi
Publication date
1 January 2018
Publisher
Abstract
Microcephaly is a rare neurological disorder, occurs in both isolated and syndromic forms. This classification could be confusing in rare disorders with variable phenotypic characteristics. However, identification of the causative gene through genetic study would allow determining the definite diagnosis. Here we reported a novel missense variant c.1133A>C (p.Lys378Thr) on the 13th exon of PNKP gene identified by whole exome sequencing (WES) in an Iranian multi-affected family with microcephaly, seizures and developmental delay (MCSZ) disorder. Data analysis suggested this variant as a pathogenic mutation which is co-segregate with the disease in the pedigree. PNKP gene mutation is consistent with the clinical features of the affected family members. Regarding both genetic findings and clinical examinations, the reported pedigree can be considered as another affected family with MCSZ syndrome, which has been reported about 10 cases worldwide. This study proves the application of WES for determining the final diagnosis in complicated neurodevelopmental disorders. © 2018 The Japanese Society of Child Neurolog
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eprints Iran University of Medical Sciences
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oai:eprints.iums.ac.ir:7080
Last time updated on 10/10/2019
eprints Iran University of Medical Sciences
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:eprints.iums.ac.ir:15063
Last time updated on 01/12/2020