Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

Academic Article

Abstract

  • Opitz syndrome (OS, McKusick 145410)1 is a well described genetic syndrome affecting multiple organ systems whose cardinal manifestations include widely spaced eyes and hypospadias (Fig. 1). It was first reported as two separate entities, BBB syndrome2, and G syndrome3. However, subsequent reports of families in which the BBB and G syndrome segregated within a single kindred suggested that they were a single clinical entity4. Although the original pedigrees were consistent with X-linked and autosomal dominant inheritance, male-to-male transmission in subsequent reports5,6 suggested that OS was inherited as an autosomal dominant trait7. Here we report that OS is a heterogeneous disorder, with an X-linked and an autosomal locus. Three families were linked to DXS987 in Xp22, with a lod score of 3.53 at zero recombination. Five families were linked to D22S345 from chromosome 22q11.2, with a lod score of 3.53 at zero recombination. This represents the first classic multiple congenital anomaly syndrome with an X-linked and an autosomal form. ¬© 1995 Nature Publishing Group.
  • Published In

  • Nature Genetics  Journal
  • Digital Object Identifier (doi)

    Author List

  • Robin NH; Feldman GJ; Aronson AL; Mitchell HF; Weksberg R; Leonard CO; Burton BK; Josephson KD; Laxov√° R; Aleck KA
  • Start Page

  • 459
  • End Page

  • 461
  • Volume

  • 11
  • Issue

  • 4