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Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome
Author(s) -
Saitsu H,
Kato M,
Shimono M,
Senju A,
Tanabe S,
Kimura T,
Nishiyama K,
Yoneda Y,
Kondo Y,
Tsurusaki Y,
Doi H,
Miyake N,
Hayasaka K,
Matsumoto N
Publication year - 2012
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2011.01733.x
Subject(s) - exon , reverse transcriptase , amplicon , biology , microbiology and biotechnology , stop codon , primer (cosmetics) , nonsense mutation , genetics , complementary dna , mutant , nonsense mediated decay , gene , polymerase chain reaction , mutation , rna , rna splicing , chemistry , organic chemistry , missense mutation
To the Editor : Ohtahara syndrome (OS) is characterized by early-onset of seizures, suppression-burst patterns on electroencephalogram (EEG), and severe psychomotor retardation (1–3). De novo mutations in the STXBP1 gene, including various point mutations and one complete deletion, have been found in about one-third of Japanese cases of cryptogenic OS (4–6). However, the clinical spectrum of STXBP1 mutations can be applied to other pathologies. For instance, in one study, STXBP1 abnormalities including a microdeletion were detected in approximately 10% of patients (5/49) with early-onset epileptic encephalopathy that did not fit into a specific epilepsy syndrome (7). Other studies have also detected de novo STXBP1 mutations in 2 of 95 individuals with mental retardation and non-syndromic epilepsy (8), in addition to the detection of a de novo partial deletion in a child with epilepsy and autistic features (9, 10). On the basis of these findings, extensive genetic testing including copy number analysis of STXBP1 should be considered in children with early-onset seizures. However, the use of high-resolution copy number analysis of STXBP1 thus far has been limited. In this study, we performed customized array comparative genomic hybridization (aCGH) analysis, in which a total of 27,026 probes covering