Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.

We have studied a four-generation family with features of Weyers acrofacial dysostosis, in which the proband has a more severe phenotype, resembling Ellis-van Creveld syndrome. Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Ellis-van Creveld syndrome is a similar condition, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease. Linkage and haplotype analysis determined that the disease locus in this pedigree resides on chromosome 4p16, distal to the genetic marker D4S3007 and within a 17-cM region flanking the genetic locus D4S2366. This region includes the Ellis-van Creveld syndrome locus, which previously was reported to map within a 3-cM region between genetic markers D4S2957 and D4S827. Either the genes for the condition in our family and for Ellis-van Creveld syndrome are near one another or these two conditions are allelic with mutations in the same gene. These data also raise the possibility that Weyers acrofacial dysostosis is the heterozygous expression of a mutation that, in homozygous form, causes the autosomal recessive disorder Ellis-van Creveld syndrome.
AuthorsT D Howard, A E Guttmacher, W McKinnon, M Sharma, V A McKusick, E W Jabs
JournalAmerican journal of human genetics (Am J Hum Genet) Vol. 61 Issue 6 Pg. 1405-12 (Dec 1997) ISSN: 0002-9297 [Print] UNITED STATES
PMID9399901 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Homeodomain Proteins
  • MSX1 Transcription Factor
  • Transcription Factors
  • Abnormalities, Multiple (genetics)
  • Adult
  • Bone and Bones (abnormalities)
  • Chromosomes, Human, Pair 4 (genetics)
  • DNA Mutational Analysis
  • Ductus Arteriosus, Patent (genetics)
  • Dwarfism (genetics)
  • Ellis-Van Creveld Syndrome (genetics)
  • Female
  • Genes, Dominant
  • Genes, Recessive
  • Haplotypes (genetics)
  • Heart Septal Defects, Ventricular (genetics)
  • Homeodomain Proteins (genetics)
  • Humans
  • Infant, Newborn
  • Lod Score
  • MSX1 Transcription Factor
  • Male
  • Nails, Malformed
  • Pedigree
  • Phenotype
  • Polydactyly (genetics)
  • Polymerase Chain Reaction
  • Syndrome
  • Tooth Abnormalities (genetics)
  • Transcription Factors

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