RGD Reference Report - Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome. - Rat Genome Database

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Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome.

Authors: Tamhankar, PM  Vasudevan, L  Kondurkar, S  Yashaswini, K  Agarwalla, SK  Nair, M  Ramkumar, TV  Chaubal, N  Chennuri, VS 
Citation: Tamhankar PM, etal., J Clin Res Pediatr Endocrinol. 2014;6(2):79-83. doi: 10.4274/Jcrpe.1233.
RGD ID: 11537348
Pubmed: PMID:24932600   (View Abstract at PubMed)
PMCID: PMC4141580   (View Article at PubMed Central)
DOI: DOI:10.4274/Jcrpe.1233   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ROR2Humanautosomal recessive Robinow syndrome  IAGP DNA:missense mutations:exons: c.545G>A (p.C182Y) and c.227G>A (p.G76D), c.668G>A (p.C223Y)(human)RGD 
Ror2Ratautosomal recessive Robinow syndrome  ISOROR2 (Homo sapiens)DNA:missense mutations:exons: c.545G>A (p.C182Y) and c.227G>A (p.G76D), c.668G>A (p.C223Y)(human)RGD 
Ror2Mouseautosomal recessive Robinow syndrome  ISOROR2 (Homo sapiens)DNA:missense mutations:exons: c.545G>A (p.C182Y) and c.227G>A (p.G76D), c.668G>A (p.C223Y)(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ror2  (receptor tyrosine kinase-like orphan receptor 2)

Genes (Mus musculus)
Ror2  (receptor tyrosine kinase-like orphan receptor 2)

Genes (Homo sapiens)
ROR2  (receptor tyrosine kinase like orphan receptor 2)


Additional Information