Abstract:
OBJECTIVE:Robinow syndrome (RS) is an extremely rare genetic disorder characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. Mutations in the ROR2 gene cause autosomal recessive RS (RRS) whereas mutations in WNT5A are responsible for the autosomal dominant (AD) form of RS. In AD Robinow patients, oral manifestations are more prominent, while hemivertebrae and scoliosis rarely occur and facial abnormalities tend to be milder. METHODS:Three unrelated patients from different parts of India were studied. These patients were diagnosed as RRS due to presence of characteristic fetal facies, mesomelia, short stature, micropenis, hemivertebrae and rib abnormalities. One of the patients had fetal facies and micropenis but unusually mild skeletal features. This patient's mother had mild affection in the form of short stature and prominent eyes. Testosterone response to human chorionic gonadotropin was investigated in two patients and were normal. The exons and exon-intron boundaries of the ROR2 gene were sequenced for all probands. Bioinformatics analysis was done for putative variants using SIFT, PolyPhen2 and Mutation Taster. RESULTS:Patients 1, 2 and 3 were homozygous for c.G545A or p.C182Y in exon 5, c.227G>A or p.G76D in exon 3 and c.668G>A or p.C223Y in exon 6 respectively. Prenatal diagnosis could be performed in an ongoing pregnancy in one family and the fetus was confirmed to be unaffected. CONCLUSION:ROR2 mutations were documented for the first time in the Indian population. Knowledge of the molecular basis of the disorder served to provide accurate counseling and prenatal diagnosis to the families.
journal_name
J Clin Res Pediatr Endocrinoljournal_title
Journal of clinical research in pediatric endocrinologyauthors
Tamhankar PM,Vasudevan L,Kondurkar S,Yashaswini K,Agarwalla SK,Nair M,Ramkumar TV,Chaubal N,Chennuri VSdoi
10.4274/Jcrpe.1233subject
Has Abstractpub_date
2014-01-01 00:00:00pages
79-83issue
2eissn
1308-5727issn
1308-5735journal_volume
6pub_type
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journal_title:Journal of clinical research in pediatric endocrinology
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journal_title:Journal of clinical research in pediatric endocrinology
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
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pub_type: 杂志文章,评审
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