Document Detail


Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.
MedLine Citation:
PMID:  2852474     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Five male Japanese patients with complex glycerol kinase deficiency (CGKD) and their relatives were studied clinically, cytogenetically, and molecular-genetically. All patients had muscular dystrophy or muscle weakness, mental retardation, congenital adrenal hypoplasia, and glycerol kinase deficiency. High-resolution GTG-banded chromosomes showed a microdeletion in the Xp21 region in all four patients examined and in all five mothers. Southern hybridizations, after digestions by restriction endonucleases, with various cloned DNAs (D2, 99-6, B24, C7, L1-4, cDMD13-14, J66-HI, P20, J-Bir, ERT87-30, ERT87-15, ERT87-8, ERT87-1, XJ-1.1, 754, cx5.7, and OTC-1) that are located around Xp21 also showed a deletion in the genome of all patients and mothers. Although the deletion differed in size among patients, a segment commonly absent was located between the genomic sequences corresponding to L1-4 and cDMD13-14. This finding indicated that the gene coding for glycerol kinase (GK) is located within this segment. A comparison of the clinical manifestations of the present five patients and reported CGKD or Duchenne muscular dystrophy (DMD) patients with DNA deletion suggests the existence of a certain gene responsible for gonadotropin deficiency (GTD). The result of the present study and results of previous studies suggest that genes for ornithine transcarbamylase (OTC), DMD, and GK and putative genes responsible for congenital adrenal hypoplasia (AHC) and GTD are arranged from telomere to centromere as pter--GTD--AHC--GK--DMD--OTC--cen.
Authors:
T Matsumoto; T Kondoh; M Yoshimoto; K Fujieda; N Matsuura; I Matsuda; T Miike; K Yano; A Okuno; Y Aoki
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  31     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1988 Nov 
Date Detail:
Created Date:  1989-04-06     Completed Date:  1989-04-06     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  603-16     Citation Subset:  IM    
Affiliation:
Department of Human Genetics, Nagasaki University School of Medicine, Japan.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Child, Preschool
Chromosome Deletion*
Chromosome Mapping*
Female
Glycerol Kinase / deficiency*,  genetics
Heterozygote Detection
Humans
Infant
Japan
Karyotyping
Linkage (Genetics)
Male
Phosphotransferases / deficiency*
X Chromosome / ultrastructure*
Chemical
Reg. No./Substance:
EC 2.7.-/Phosphotransferases; EC 2.7.1.30/Glycerol Kinase

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


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