ADULT syndrome allelic to limb mammary syndrome (LMS)?

Am J Med Genet. 2000 Jan 17;90(2):179-82.


In 1993, we described an autosomal-dominant syndrome in a German family characterized by ectrodactyly/syndactyly, dysplasia of nails, lacrimal duct atresia, hypodontia, hypoplastic breasts and nipples, intensive freckling (ADULT syndrome, acro-dermato-ungual-lacrimal-tooth syndrome, MIM 103285). In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, cleft palate/bifid uvula, hypodontia was reported. In this family the disease locus was recently mapped to the chromosomal region 3q27 through a genome-wide linkage screen. Given the similarity of manifestations we hypothesized that the two syndromes might be allelic. We genotyped 21 members of the ADULT family with 19 polymorphic markers from the chromosomal region 3q27 and obtained a maximal lod score of 4.82 at straight theta = 0.00 with marker D3S1288. Our results place the ADULT locus to the same chromosomal region where LMS was mapped, suggesting that these two conditions are allelic.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Alleles*
  • Breast / abnormalities*
  • Child
  • Chromosomes, Human, Pair 3
  • Female
  • Genetic Linkage
  • Genotype
  • Humans
  • Limb Deformities, Congenital / genetics*
  • Male
  • Pedigree
  • Syndrome