RGD Reference Report - A new mutation in the gene ROR2 causes brachydactyly type B1. - Rat Genome Database

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A new mutation in the gene ROR2 causes brachydactyly type B1.

Authors: Huang, D  Jiang, S  Zhang, Y  Liu, X  Zhang, J  He, R 
Citation: Huang D, etal., Gene. 2014 Aug 15;547(1):106-10. doi: 10.1016/j.gene.2014.06.035. Epub 2014 Jun 19.
RGD ID: 11535953
Pubmed: PMID:24954533   (View Abstract at PubMed)
DOI: DOI:10.1016/j.gene.2014.06.035   (Journal Full-text)

Brachydactyly type B, an autosomal dominant disorder that is characterized by hypoplasia of the distal phalanges and nails, can be divided into brachydactyly type B1 (BDB1) and brachydactyly type B2 (BDB2). BDB1 is caused by mutations in the receptor tyrosine kinase gene ROR2, which maps to chromosome 9q22, whereas BDB2 is caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Here, we report a three-generation Chinese family with dominant inheritance of the BDB1 limb phenotype. Sequence analysis identified a novel heterozygous base deletion (c.1396-1398delAA) in the gene ROR2 in all affected family members. This new deletion is expected to produce a truncated Ror2 protein with a new polypeptide of 57 amino acids at the C-terminal.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
brachydactyly type B1  IAGP 11535953DNA:deletion:exon:c.1396-1398delAA and (human)RGD 
brachydactyly type B1  ISOROR2 (Homo sapiens)11535953; 11535953DNA:deletion:exon:c.1396-1398delAA and (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Aplasia/Hypoplasia of the phalanges of the hand  IAGP 11535953DNA:deletion:exon:c.1396-1398delAA and (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