In:
Cytogenetic and Genome Research, S. Karger AG, Vol. 146, No. 2 ( 2015), p. 115-119
Abstract:
We report the first case of an 18p11.32 deletion, detected by array CGH, associated with a drug-resistant form of atypical absence epilepsy, global developmental delay and no signs of holoprosencephaly (HPE). In particular, this region encompasses 19 genes, and none of these genes have been strictly associated with epilepsy. Among these, 〈 i 〉 TGIF1 〈 /i 〉 is expressed in the fetal and adult nervous system, and its deletion has been related to central nervous system diseases. 〈 i 〉 TGIF1 〈 /i 〉 deletions have previously been reported in patients with a comparable phenotype as seen in our case and in children whose neurological signs and symptoms were considerable, but not epileptiform. Mutations and deletions involving the 〈 i 〉 TGIF1 〈 /i 〉 gene have been described in patients with HPE in an autosomal dominant model of inheritance. However, 〈 i 〉 TGIF1 〈 /i 〉 mutations have also been reported in normal individuals and in patients with mental retardation or showing a very mild phenotype, suggesting the characteristic of incomplete penetrance and variable expressivity. Therefore, a 〈 i 〉 TGIF1 〈 /i 〉 deletion may not be always related to HPE, and it may have a link to the development of epilepsy.
Type of Medium:
Online Resource
ISSN:
1424-8581
,
1424-859X
Language:
English
Publisher:
S. Karger AG
Publication Date:
2015
detail.hit.zdb_id:
2061918-2
SSG:
12
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