Description:
DYGGVE-MELCHIOR-CLAUSEN DISEASE
DYMECLIN; DYM
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Hispanic/Latino
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Ethnicity
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DOMINICAN REPUBLICAN
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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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 |
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| 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. |
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| 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. |
| 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)] |
| 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 |
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| 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 |
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