Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.2, pp.185-189, 2005 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: Issue: 2
- Publication Date: 2005
- Doi Number: 10.1002/ajmg.a.30785
- Journal Name: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.185-189
- Keywords: autosomal recessive Robinow syndrome, nephrocalcinosis, hypocitraturia, rudimentary kidney, mesomelia, gonadotropic hormones, BRACHYDACTYLY TYPE-B, RECEPTOR TYROSINE KINASE, ROR2, MUTATIONS, GENE
- Istanbul University Affiliated: Yes
Abstract
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.