Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2.
Robin NH,
Feldman GJ,
Aronson AL,
Mitchell HF,
Weksberg R,
Leonard CO,
Burton BK,
Josephson KD,
Laxová R,
Aleck KA,
Allanson JE,
Guion-Almeida ML,
Martin RA,
Leichtman LG,
Price RA,
Opitz JM,
Muenke M.
Children's Hosp of Philadelphia, Dept of Pediatrics, Pennsylvania, USA.
Opitz syndrome (OS, McKusick 145410) 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 syndrome, and G syndrome. However, subsequent reports of families in which the BBB and G syndrome segregated within a single kindred suggested that they were a single clinical entity. Although the original pedigrees were consistent with X-linked and autosomal dominant inheritance, male-to-male transmission in subsequent reports suggested that OS was inherited as an autosomal dominant trait. 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.
PMID: 7493033 [PubMed - indexed for MEDLINE]