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NA18308 DNA from LCL

Description:

DYGGVE-MELCHIOR-CLAUSEN DISEASE
DYMECLIN; DYM

Affected:

Yes

Sex:

Male

Age:

11 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Connective Tissue, Muscle, and Bone
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race Hispanic/Latino
Ethnicity DOMINICAN REPUBLICAN
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; short trunk; rhizomelic shortening; increasing lordosis; platyspondyly; developmental delay; mental retardation; parents are consanguineous; donor subject is homozygous for a C>G point mutation at nucleotide 48 in exon 2 of the DYM (FLJ90130) gene (48C>G), resulting in a truncation and premature stop at codon 16 [TYR16TER (Y16X)]

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene DYM
Chromosomal Location 18q12-q21.1
Allelic Variant 1 607461.0001; DYGGVE-MELCHIOR-CLAUSEN DISEASE
Identified Mutation TYR16TER; In a consanguineous family originating in the Dominican Republic, Cohn et al. (Am. J. Hum. Genet. 72: 419-428, 2003) found that an individual affected with DMC (223800) was homozygous for a 48C-G point mutation in exon 2 of the FLJ90130 gene, predicting a tyr16-to-stop (Y16X) change. Both parents were carriers of the mutation, and an unaffected child was homozygous for the normal sequence, compatible with the chromosome 18 haplotypes inherited from her parents (Ehtesham et al., Am. J. Hum. Genet. 71: 947-951, 2002). The very early truncation of the protein implied by the mutation strongly suggested that it is a null mutation. Thus, DMC appears to be the phenotype resulting from absence of the FLJ90130 gene product.
 
Gene DYM
Chromosomal Location 18q12-q21.1
Allelic Variant 2 607461.0001; DYGGVE-MELCHIOR-CLAUSEN DISEASE
Identified Mutation TYR16TER; In a consanguineous family originating in the Dominican Republic, Cohn et al. (Am. J. Hum. Genet. 72: 419-428, 2003) found that an individual affected with DMC (223800) was homozygous for a 48C-G point mutation in exon 2 of the FLJ90130 gene, predicting a tyr16-to-stop (Y16X) change. Both parents were carriers of the mutation, and an unaffected child was homozygous for the normal sequence, compatible with the chromosome 18 haplotypes inherited from her parents (Ehtesham et al., Am. J. Hum. Genet. 71: 947-951, 2002). The very early truncation of the protein implied by the mutation strongly suggested that it is a null mutation. Thus, DMC appears to be the phenotype resulting from absence of the FLJ90130 gene product.

Phenotypic Data

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Remarks Clinically affected; short trunk; rhizomelic shortening; increasing lordosis; platyspondyly; developmental delay; mental retardation; parents are consanguineous; donor subject is homozygous for a C>G point mutation at nucleotide 48 in exon 2 of the DYM (FLJ90130) gene (48C>G), resulting in a truncation and premature stop at codon 16 [TYR16TER (Y16X)]

Publications

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Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL, Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. Am J Hum Genet72(2):419-28 2003
PubMed ID: 12491225
 
Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH, Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. Am J Hum Genet71(4):947-51 2002
PubMed ID: 12161821

External Links

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dbSNP dbSNP ID: 17625
Gene Cards DYM
FLJ90130
NCBI Gene Gene ID:54808
NCBI GTR 223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC
607461 DYMECLIN; DYM
OMIM 223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC
607461 DYMECLIN; DYM
Omim Description DMC DISEASESMITH-MCCORT DYSPLASIA, INCLUDED
  DYGGVE-MELCHIOR-CLAUSEN DISEASE
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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