Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2014-12

AUTHORS

Hirotomo Saitsu, Sumimasa Yamashita, Yukichi Tanaka, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto

ABSTRACT

Homozygous frameshift BRAT1 mutations were found in patients with lethal neonatal rigidity and multifocal seizure syndrome (MIM# 614498). Here, we report on two siblings with compound heterozygous mutations in BRAT1. They had intractable seizures from neonatal period, dysmorphic features and hypertonia. Progressive microcephaly was also observed. Initial electroencephalogram showed a suppression-burst pattern, leading to a diagnosis of Ohtahara syndrome. They both died from pneumonia at 1 year and 3 months, respectively. Whole-exome sequencing of one patient revealed a compound heterozygous BRAT1 mutations (c.176T>C (p.Leu59Pro) and c.962_963del (p.Leu321Profs*81)). We are unable to obtain DNA from another patient. The p.Leu59Pro mutation occurred at an evolutionarily conserved amino acid in a CIDE-N (N-terminal of an cell death-inducing DFF45-like effector) domain, which has a regulatory role in the DNA fragmentation pathway of apoptosis. Our results further support that mutations of BRAT1 could lead to epileptic encephalopathy. More... »

PAGES

687

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2014.91

DOI

http://dx.doi.org/10.1038/jhg.2014.91

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1050028191

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25319849


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