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

Nathaniel H. Robin, George J. Feldman, Adam L. Aronson, Heather F. Mitchell, Rosanna Weksberg, Claire O. Leonard, Barbara K. Burton, Kevin D. Josephson, Renata Laxová, Kyrieckos A. Aleck, Judith E. Allanson, Maria Leine Guion-Almeida, Rick A. Martin, Lawrence G. Leichtman, R. Arlen Price, John M. Opitz, Maximilian Muenke*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

87 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)459-461
Number of pages3
JournalNature Genetics
Volume11
Issue number4
DOIs
StatePublished - Dec 1995

ASJC Scopus subject areas

  • Genetics

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