Document Detail


Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.
MedLine Citation:
PMID:  20339384     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
By using an in-house bacterial artificial chromosome-based X-tilling array, we detected a 0.4 Mb novel deletion at Xq24 that included UBE2A in a 4-year-old and 10-month-old boy with mental retardation and various other characteristics inherited from his mother; for example, marked developmental delay, synophrys, ocular hypertelorism, esotropia, low nasal bridge, marked generalized hirsutism and seizure. Although additional nine transcripts around UBE2A were also defective, a phenotypic similarity with a recently reported X-linked familial case involving a novel X-linked mental retardation syndrome and a nonsense mutation of UBE2A indicates a functional defect of UBE2A to be responsible for most of the abnormalities in these cases. Because some characteristics, such as congenital heart disease and proximal placement of the thumb, were not described in the family reported previously, suggesting genes other than UBE2A within the deleted region to be responsible for those abnormalities.
Authors:
Shozo Honda; Koji O Orii; Junya Kobayashi; Shin Hayashi; Atsushi Imamura; Issei Imoto; Eiji Nakagawa; Yu-ichi Goto; Johji Inazawa
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-03-26
Journal Detail:
Title:  Journal of human genetics     Volume:  55     ISSN:  1435-232X     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  2010 Apr 
Date Detail:
Created Date:  2010-04-26     Completed Date:  2010-08-23     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  244-7     Citation Subset:  IM    
Affiliation:
Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan.
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MeSH Terms
Descriptor/Qualifier:
Adult
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, X / genetics*
Family Health
Female
Humans
In Situ Hybridization, Fluorescence
Male
Mental Retardation, X-Linked / genetics*,  pathology
Pedigree
Ubiquitin-Conjugating Enzymes / genetics*
Chemical
Reg. No./Substance:
EC 6.3.2.19/UBE2A protein, human; EC 6.3.2.19/Ubiquitin-Conjugating Enzymes

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


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