Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2006-2-21
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1552-4825
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
140
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
421-6
pubmed:meshHeading
pubmed-meshheading:16470731-Adolescent, pubmed-meshheading:16470731-Base Sequence, pubmed-meshheading:16470731-Child, pubmed-meshheading:16470731-Consanguinity, pubmed-meshheading:16470731-DNA Mutational Analysis, pubmed-meshheading:16470731-Family Health, pubmed-meshheading:16470731-Female, pubmed-meshheading:16470731-Fibroblasts, pubmed-meshheading:16470731-Genes, Recessive, pubmed-meshheading:16470731-Genetic Heterogeneity, pubmed-meshheading:16470731-Humans, pubmed-meshheading:16470731-Male, pubmed-meshheading:16470731-Microscopy, Electron, pubmed-meshheading:16470731-Mutation, pubmed-meshheading:16470731-Osteochondrodysplasias, pubmed-meshheading:16470731-Pedigree, pubmed-meshheading:16470731-Proteins, pubmed-meshheading:16470731-Sequence Deletion, pubmed-meshheading:16470731-Syndrome
pubmed:year
2006
pubmed:articleTitle
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.
pubmed:affiliation
Institute of Human Genetics, Charité University Medicine Berlin, Berlin, Germany. luitgard.neumann@charite.de
pubmed:publicationType
Journal Article, Case Reports