MATTHEW-WOOD SYNDROME: A CASE WITH DEXTROCARDIA AND STREAK GONADS

Cubuk P. O., Ho L., Reversade B., Percin E. F.

GENETIC COUNSELING, cilt.27, sa.3, ss.405-410, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 3
  • Basım Tarihi: 2016
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.405-410
  • Anahtar Kelimeler: Matthew Wood syndrome, STRA6 gene, Anophthalmia, Dextrocardia, Streak gonads, STRA6 MUTATIONS, VITAMIN-A, ANOPHTHALMIA, MALFORMATIONS, SPECTRUM
  • Gazi Üniversitesi Adresli: Evet

Özet

Matthew-Wood syndrome: a case with dextrocardia and streak gonads: Matthew-Wood syndrome (MWS), also termed Microphthalmia, syndrome 9 (MCOPS9, MIM 601186), Spear syndrome, or pulmonary hypoplasia, diaphragmatic hernia, anophthalmia and cardiac defects syndrome (PDAC syndrome), is an autosomal recessive disorder characterised by ocular, respiratory and cardiac abnormalities. Mutations in retinoic acid 6 gene (STRA6) have been reported in clinically diagnosed patients with MWS. Here we presented a case with MWS, who has characteristic findings of the syndrome as well as dextrocardia as an undescribed feature, and bilateral streak gonads which was described only in one patient previously. Molecular analysis showed a homozygous exonic missense mutation in the STRA6 gene.