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Published on: August 15, 2019
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A new mutation in the gene ROR2 causes brachydactyly type B1
Dan Huang1, Shujuan Jiang1, Yuanyuan Zhang1
1Clinical Genetics Department, The Affiliated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China.
Gene
|June 24, 2014
Summary
Brachydactyly type B1 is a genetic disorder affecting finger and nail development. A novel ROR2 gene mutation was identified in a Chinese family, causing this limb malformation.
Area of Science:
- Genetics
- Developmental Biology
- Orthopedics
Background:
- Brachydactyly type B is a congenital limb malformation characterized by hypoplasia of distal phalanges and nails.
- It is classified into BDB1 (ROR2 gene mutations) and BDB2 (NOGGIN gene mutations).
Purpose of the Study:
- To investigate the genetic cause of brachydactyly type B1 in a Chinese family with dominant inheritance.
- To identify novel mutations in the ROR2 gene associated with the BDB1 phenotype.
Main Methods:
- Pedigree analysis of a three-generation Chinese family.
- DNA sequencing of the ROR2 gene in affected and unaffected individuals.
- Analysis of mutation effects on the Ror2 protein.
Main Results:
- A novel heterozygous base deletion (c.1396-1398delAA) in the ROR2 gene was identified in all affected family members.
- This mutation is predicted to result in a truncated Ror2 protein, lacking 57 amino acids at the C-terminus.
- The identified mutation segregated with the BDB1 limb phenotype in the family.
Conclusions:
- The novel ROR2 gene deletion is the causative mutation for brachydactyly type B1 in this Chinese family.
- This finding expands the spectrum of ROR2 mutations associated with BDB1.
- Understanding ROR2 mutations is crucial for diagnosing and potentially treating brachydactyly type B1.
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