Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes (summary by Shaheen et al., 2013).
... Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes (summary by Shaheen et al., 2013). For a discussion of genetic heterogeneity of Adams-Oliver syndrome (AOS), see AOS1 (100300).
Shaheen et al. (2013) studied 5 affected children from 3 consanguineous Arab families who had Adams-Oliver syndrome. All patients displayed typical features of AOS, including cutis aplasia of the scalp and terminal transverse digit defects of the feet, ... Shaheen et al. (2013) studied 5 affected children from 3 consanguineous Arab families who had Adams-Oliver syndrome. All patients displayed typical features of AOS, including cutis aplasia of the scalp and terminal transverse digit defects of the feet, with hypoplastic or absent nails and variably absent distal phalanges. The probands from 2 families also had cardiac defects, including an atrial and a ventricular septal defect and patent ductus arteriosus that resolved; the 3 affected individuals from the third family had no cardiac defects, and none of the 5 patients exhibited microphthalmia.
In a 5-week-old girl from a consanguineous Arab family with AOS mapping to chromosome 3, Shaheen et al. (2013) performed exome sequencing and identified a homozygous missense mutation in the EOGT gene (W207S; 614789.0001), located within the critical ... In a 5-week-old girl from a consanguineous Arab family with AOS mapping to chromosome 3, Shaheen et al. (2013) performed exome sequencing and identified a homozygous missense mutation in the EOGT gene (W207S; 614789.0001), located within the critical locus. Sanger sequencing confirmed the homozygous mutation in the proband and showed that her unaffected parents were heterozygous carriers of the mutation. Screening of EOGT in 4 affected members from 2 more consanguineous Arab families revealed homozygosity for a 1-bp deletion (614789.0002) and for a missense mutation (R377Q; 614789.0003) that segregated with disease in both families, respectively. None of the variants were found in 230 Saudi exomes, the 1000 Genomes Project, or the NHLBI Exome Variant Server.