Document Detail

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.
MedLine Citation:
PMID:  16023556     Owner:  NLM     Status:  MEDLINE    
The 1p36 deletion syndrome is a newly delineated multiple congenital anomalies/mental retardation syndrome characterized by mental retardation, growth delay, epilepsy, congenital heart defects, characteristic facial appearance, and precocious puberty. We analyzed 11 patients by fluorescence in situ hybridization (FISH) using commercially available bacterial artificial chromosome and P1-derived artificial chromosome genomic clones to define the chromosomal deletion responsible for the 1p36 deletion syndrome. Cytogenetic investigation revealed two cases with a terminal deletion of 1p36. Nine patients had an apparently normal karyotype with standard G-bands by trypsin using Giemsa (GTG), but FISH screening with the highly polymorphic genetic marker D1Z2, which is mapped to 1p36.3 and contains an unusual reiterated 40-bp variable number tandem repeat, revealed a submicroscopic deletion. All patients had severe to profound mental retardation. Based on the University of California Santa Cruz Genome Browser, we constructed a deletion map and analyzed the relationship between neurological findings and chromosomal deletions for the 11 cases. Six cases had intractable epilepsy and three had no seizures. The common deletion interval was about 1 million base pairs (Mbp) located between RP11-82D16 and RP4-785P20 (Rho guanine exchange factor (GEF) 16). The severity of clinical symptoms correlates with the size of the deletion. This is demonstrated by the 3 patients with at least 8Mbp deletions that display profound mental retardation and congenital heart defects. Although haploinsufficiency of the potassium channel beta-subunit (KCNAB2) is thought to be responsible for intractable seizures in the 1p36 deletion syndrome, this was not the case for 3 of the 11 patients in this study. Further investigation of the 1p36 region is necessary to allow identification of genes responsible for the 1p36 deletion syndrome.
Kenji Kurosawa; Hiroshi Kawame; Nobuhiko Okamoto; Yukikatsu Ochiai; Akira Akatsuka; Masahisa Kobayashi; Masayuki Shimohira; Seiji Mizuno; Kazuko Wada; Yoshimitsu Fukushima; Hisashi Kawawaki; Toshiyuki Yamamoto; Mitsuo Masuno; Kiyoshi Imaizumi; Yoshikazu Kuroki
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2005-04-13
Journal Detail:
Title:  Brain & development     Volume:  27     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:  2005 Aug 
Date Detail:
Created Date:  2005-07-18     Completed Date:  2005-09-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  378-82     Citation Subset:  IM    
Division of Medical Genetics, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Kanagawa 232-8555, Japan.
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MeSH Terms
Abnormalities, Multiple / genetics*,  physiopathology*
Child, Preschool
Chromosome Disorders / genetics*,  physiopathology*
Chromosomes, Human, Pair 1 / genetics*
Epilepsy / genetics,  physiopathology
In Situ Hybridization, Fluorescence
Mental Retardation / genetics,  physiopathology

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