Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: Clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia

Dyggve–Melchior–Clausen syndrome (DMC) (MIM 223800) and Smith–McCort dysplasia (SMC) (MIM 607326) are rare allelic autosomal recessive spondylo‐epi‐metaphyseal dysplasias (SEMDs) characterized by similar skeletal manifestations. Both phenotypes have been mapped to chromosome 18q21.1 and mutations in...

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Published in:American journal of medical genetics. Part A 2006-03, Vol.140A (5), p.421-426
Main Authors: Neumann, Luitgard M., Ghouzzi, Vincent El, Paupe, Vincent, Weber, Hans-Peter, Fastnacht, Elisabeth, Leenen, Andreas, Lyding, Sigrid, Klusmann, Anne, Mayatepek, Ertan, Pelz, Jörg, Cormier-Daire, Valerie
Format: Article
Language:English
Subjects:
Adolescent
Base Sequence
Biological and medical sciences
Child
Consanguinity
DNA Mutational Analysis
Dyggve-Melchior-Clausen syndrome (DMC)
DYM (dymeclin)
Family Health
Female
Fibroblasts - pathology
Fibroblasts - ultrastructure
Genes, Recessive - genetics
Genetic Heterogeneity
Genetics
Humans
Life Sciences
Male
Medical genetics
Medical sciences
Microscopy, Electron
Mutation
Osteochondrodysplasias - diagnostic imaging
Osteochondrodysplasias - genetics
Osteochondrodysplasias - pathology
Pedigree
Proteins - genetics
Radiography
Sequence Deletion
Smith-McCort dysplasia (SMC)
Syndrome
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Summary:Dyggve–Melchior–Clausen syndrome (DMC) (MIM 223800) and Smith–McCort dysplasia (SMC) (MIM 607326) are rare allelic autosomal recessive spondylo‐epi‐metaphyseal dysplasias (SEMDs) characterized by similar skeletal manifestations. Both phenotypes have been mapped to chromosome 18q21.1 and mutations in the DYM (dymeclin) gene were identified in 13 families with DMC and in two families with SMC. Most mutations identified in DMC predict a loss of function, while those identified in SMC are mainly missense mutations, presumably associated with residual DYM activity and a less severe phenotype. We studied three consanguineous families from Turkey, Lebanon, and Georgia, one with SMC and two with DMC and identified different homozygous DYM mutations (IVS3 194‐1G > A, 938_942delTGTCT) in the DMC families. No mutation was identified in the SMC family, possibly suggesting genetic heterogeneity of this disorder. © 2006 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.31090