Adams-Oliver syndrome caused by mutations of the EOGT gene

Schroeder K. C., DUMAN D., Tekin M., Schanze D., Sukalo M., Meester J., ...Daha Fazla

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.179, sa.11, ss.2246-2251, 2019 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 179 Sayı: 11
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1002/ajmg.a.61313
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2246-2251
  • Anahtar Kelimeler: Adams-Oliver syndrome, aplasia cutis congenita, autosomal recessive, EOGT, transversal terminal limb defect, OF-FUNCTION MUTATIONS, APLASIA
  • Ankara Üniversitesi Adresli: Evet

Özet

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.