Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome

Tufan F., Cefle K., Turkmen S., Turkmen A., Zorba U., Dursun M., ...Daha Fazla

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, sa.2, ss.185-189, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: Sayı: 2
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1002/ajmg.a.30785
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.185-189
  • Anahtar Kelimeler: autosomal recessive Robinow syndrome, nephrocalcinosis, hypocitraturia, rudimentary kidney, mesomelia, gonadotropic hormones, BRACHYDACTYLY TYPE-B, RECEPTOR TYROSINE KINASE, ROR2, MUTATIONS, GENE
  • İstanbul Üniversitesi Adresli: Evet

Özet

Autosomal recessive Robinow syndrome is caused by mutations in ROR2 and is characterized by short stature, mesomelic limb shortening, brachydactyly, vertebral abnormalities, and a characteristic "fetal face" dysmorphology. We report the clinical and molecular studies on two adults with this condition. Besides typical skeletal and facial features, one patient developed hydronephrosis, nephrocalcinosis, and renal failure. The second patient had characteristic skeletal manifestations including severe spinal involvement and showed endocrinological abnormalities including elevated gonadotropic hormones. The facial phenotype in both patients remained distinctive into adulthood. Analysis of the ROR2 gene revealed a homozygous c.1937_1943delACAAGCT mutation in Patient 1, and compound heterozygosity for c.355C > T (p.R119X). and c.550C > T (p.R184C) in Patient 2. (c) 2005 Wiley-Liss, Inc.