A new mutation in the gene ROR2 causes brachydactyly type B1

Dan Huang; Shujuan Jiang; Yuanyuan Zhang; Xiaoliang Liu; Jiubin Zhang; Rong He

doi:10.1016/j.gene.2014.06.035

A new mutation in the gene ROR2 causes brachydactyly type B1

Gene. 2014 Aug 15;547(1):106-10. doi: 10.1016/j.gene.2014.06.035. Epub 2014 Jun 19.

Authors

Dan Huang¹, Shujuan Jiang¹, Yuanyuan Zhang¹, Xiaoliang Liu¹, Jiubin Zhang², Rong He³

Affiliations

¹ Clinical Genetics Department, The Affiliated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China.
² Orthopedics Department, The First Affiliated Hospital, China Medical University, 110001 Shenyang, Liaoning, PR China.
³ Clinical Genetics Department, The Affiliated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China. Electronic address: her@sj-hospital.org.

PMID: 24954533
DOI: 10.1016/j.gene.2014.06.035

Abstract

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.

Keywords: Brachydactyly type B1; Mutation; ROR2; c.1396–1398delAA.

MeSH terms

Brachydactyly / genetics*
Female
Foot / diagnostic imaging
Hand / diagnostic imaging
Humans
Male
Mutation*
Pedigree
Radiography
Receptor Tyrosine Kinase-like Orphan Receptors / genetics*

Substances

ROR2 protein, human
Receptor Tyrosine Kinase-like Orphan Receptors