title: A new mutation in the gene ROR2 causes brachydactyly type B1.
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.
authors: Clinical Genetics Department, The Affiliated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China.
authors: Dan
authors: D
authors: Huang
authors: Clinical Genetics Department, The Affiliated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China.
authors: Shujuan
authors: S
authors: Jiang
authors: Clinical Genetics Department, The Affiliated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China.
authors: Yuanyuan
authors: Y
authors: Zhang
authors: Clinical Genetics Department, The Affiliated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China.
authors: Xiaoliang
authors: X
authors: Liu
authors: Orthopedics Department, The First Affiliated Hospital, China Medical University, 110001 Shenyang, Liaoning, PR China.
authors: Jiubin
authors: J
authors: Zhang
authors: Clinical Genetics Department, The Affiliated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China. Electronic address: her@sj-hospital.org.
authors: Rong
authors: R
authors: He
mesh_terms: D059327:Brachydactyly / Q000235:genetics*; D005260:Female; D005528:Foot / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011859:Radiography; D057050:Receptor Tyrosine Kinase-like Orphan Receptors / Q000235:genetics*
chemical_list: C078717:ROR2 protein, human; D057050:Receptor Tyrosine Kinase-like Orphan Receptors
keywords: Brachydactyly type B1; Mutation; ROR2; c.1396–1398delAA