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Adams–Oliver syndrome caused by mutations of the EOGT gene
Author(s) -
Schröder Kim C.,
Duman Duygu,
Tekin Mustafa,
Schanze Denny,
Sukalo Maja,
Meester Josephina,
Wuyts Wim,
Zenker Martin
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61313
Subject(s) - genetics , autosomal recessive inheritance , inheritance (genetic algorithm) , phenotype , biology , gene , genetic heterogeneity , mutation
Adams–Oliver syndrome (AOS) is a rare congenital disease characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD). It shows significant genetic heterogeneity and can be transmitted by autosomal dominant or recessive inheritance. Recessive inheritance is associated with mutations of DOCK6 or EOGT ; however, only few cases have been published so far. We present two families with EOGT ‐associated AOS. Due to pseudodominance in one family, the recognition of the recessive inheritance pattern was difficult. We identified two novel AOS‐causing mutations (c.404G>A/p.Cys135Tyr and c.311+1G>T). The phenotype in the presented families was dominated by large ACC, whereas TTLD were mostly subtle or even absent and no major malformations occured. Our observations along with the previously published cases indicate that the two types of recessive AOS ( EOGT‐ vs. DOCK6‐associated ) differ significanty regarding the frequency of neurologic or ocular deficits.