Document Detail


Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease.
MedLine Citation:
PMID:  19423250     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Pelizaeus-Merzbacher-like disease (PMLD) is a hypomyelinating disorder of the central nervous system caused by mutation in the gap junction protein alpha 12 (GJA12) gene. Uniparental disomy (UPD) is defined as the presence of a chromosome pair, in a diploid individual, that derives from only one parent. Here, we analyzed GJA12 gene mutations in two Chinese PMLD patients and two novel mutations of GJA12 c.216delGinsAA (c.P73fsX106) caused by paternal UPD for chromosome 1 and c.138C>G (p.I46M) were identified. The patient 1 harbored a homozygous frameshift mutation at c.216delGinsAA (p.P73fsX106) in the GJA12. Haplotype analysis of the entire chromosome 1 of the patient revealed that this chromosome was exclusively derived from her father. The GJA12 gene is located on chromosome 1q41-42 and falls within the region of paternal isodisomy on the q arm. Thus, a novel homozygous frameshift mutation p.P73fsX106, caused by paternal UPD for chromosome 1, was identified in patient 1 with PMLD. Patient 2 was found a homozygous missense mutation at c.138C>G (p.I46M). This is the first GJA12 gene mutations reported from two Chinese PMLD patients and one mutation was associated with UPD for chromosome 1.
Authors:
Jingmin Wang; Huifang Wang; Yueying Wang; Tianjian Chen; Xiru Wu; Yuwu Jiang
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2009-05-06
Journal Detail:
Title:  Brain & development     Volume:  32     ISSN:  1872-7131     ISO Abbreviation:  Brain Dev.     Publication Date:  2010 Mar 
Date Detail:
Created Date:  2010-02-15     Completed Date:  2010-04-27     Revised Date:  2010-10-15    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  236-43     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Connexins / genetics*
DNA Mutational Analysis
Female
Genetic Predisposition to Disease*
Humans
Magnetic Resonance Imaging / methods
Mutation / genetics*
Pelizaeus-Merzbacher Disease / genetics*
Grant Support
ID/Acronym/Agency:
D43 TW06176/TW/FIC NIH HHS
Chemical
Reg. No./Substance:
0/Connexins; 0/connexin 47

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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