Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.
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.
Tufan
Fatih
F
Department of Internal Medicine, Istanbul University, Istanbul Medical Faculty, Capa, Turkey.
Cefle
Kivanc
K
Türkmen
Seval
S
Türkmen
Aydin
A
Zorba
Unal
U
Dursun
Memduh
M
Oztürk
Sükrü
S
Palandüz
Sükrü
S
Ecder
Tevfik
T
Mundlos
Stefan
S
Horn
Denise
D
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001483:Base Sequence; D019465:Craniofacial Abnormalities; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005808:Genes, Recessive / Q000235:genetics*; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D017880:Limb Deformities, Congenital / Q000473:pathology; D008297:Male; D009154:Mutation; D057050:Receptor Tyrosine Kinase-like Orphan Receptors; D011956:Receptors, Cell Surface / Q000235:genetics*; D013577:Syndrome
D011956:Receptors, Cell Surface; D004247:DNA; C078717:ROR2 protein, human; D057050:Receptor Tyrosine Kinase-like Orphan Receptors