Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2014-08

AUTHORS

Mitsuko Nakashima, Kyoko Takano, Hitoshi Osaka, Noriko Aida, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto

ABSTRACT

We report on a 1-year-old boy with microcephaly with a simplified gyral pattern, early-onset seizures, congenital hearing loss and a severe developmental delay. Trio-based whole-exome sequencing identified candidate compound heterozygous mutations in two genes: c.163G>T (p.Ala55Ser) and c.874G>A (p.Gly292Arg) in polynucleotide kinase 3'-phosphatase gene (PNKP), and c.195G>A (p.Met65Ile) and c.1210A>C (p.Ser404Arg) in PCDH15. PNKP and PCDH15 mutations have been reported in autosomal recessive microcephaly with early-onset seizures and developmental delay syndrome, and Usher syndrome type 1F, respectively. Our patient showed neurological features similar to reported cases of both syndromes that could be explained by the observed mutations in both PNKP and PCDH15, which therefore appear to be pathogenic in this case. More... »

PAGES

471

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2014.51

DOI

http://dx.doi.org/10.1038/jhg.2014.51

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1049563078

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24965255


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