Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.

Abstract

UNLABELLED:

Syndactyly type IV (SD4) is inherited in an autosomal dominant fashion and characterized by complete cutaneous syndactyly of all fingers accompanied with polydactyly. Triphalangeal thumb-polysyndactyly syndrome (TPTPS) consists of a triphalangeal thumb, polydactyly, and syndactyly and is transmitted in an autosomal dominant manner with variable expression. Genomic duplications of the long-range limb-specific cis-regulator (ZRS) cause SD4 and TPTPS. Here, we report two individuals from a Chinese family with syndactyly. One individual had overlapping clinical symptoms of TPTPS and SD4, while the other had a typical SD4 with postaxial polydactyly of the toe. Results of quantitative PCR suggested that the duplication of ZRS involved all affected individuals, and array comparative genomic hybridization detected its size as 115.3 kb.

CONCLUSION:

This work confirms the genetic homogeneity of SD4 and TPTPS. Our result expands the spectrum of ZRS duplications. TPTPS and SD4 should be considered as a continuum of phenotypes.

• Authors: Limeng Dai, Hong Guo, Hui Meng, Kun Zhang, Hua Hu, Hong Yao, Yun Bai
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 172 Issue 11 Pg. 1467-73 (Nov 2013) ISSN: 1432-1076 [Electronic] Germany
• PMID: 23793141 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Genetic Markers
• LMBR1 protein, human
• Membrane Proteins

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Adult
• China
• Comparative Genomic Hybridization
• Congenital Abnormalities (diagnosis, genetics)
• Female
• Fingers (abnormalities)
• Genetic Markers
• Genetic Testing
• Humans
• Male
• Mandibulofacial Dysostosis (diagnosis, genetics)
• Membrane Proteins (genetics)
• Pedigree
• Phenotype
• Polydactyly (diagnosis, genetics)
• Real-Time Polymerase Chain Reaction
• Syndactyly (diagnosis, genetics)
• Syndrome
• Toes (abnormalities)