Article
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
Journal of human genetics - 1 Aug 2014
Nakashima Mitsuko, Takano Kyoko, Osaka Hitoshi, Aida Noriko, Tsurusaki Yoshinori, Miyake Noriko, Saitsu Hirotomo, Matsumoto Naomichi
Abstract excerpt
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...
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