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BMC Medical Genetics

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Open Access 01-12-2013 | Research article

Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation

Authors: Li Dai, Ying Deng, Nana Li, Liang Xie, Meng Mao, Jun Zhu

Published in: BMC Medical Genetics | Issue 1/2013

Abstract

Background

Split hand/foot malformation (SHFM) is a congenital disorder characterized by a cleft of the hands and/or feet due to dificiency of central rays. Genomic rearrangement at 10q24 has been found to cause nonsyndromic SHFM (SHFM3).

Methods

Four patients and fourteen unaffected individuals from a four-generation Chinese pedigree with typical SHFM3 phenotypes were recruited for this study. After informed consent was obtained, genome-wide copy number analysis was performed on all patients and two normal family members using the Affymetrix Cytogenetics Whole-Genome 2.7M Array. The results were then confirmed by real-time quantitative polymerase chain reaction in all available individuals of this pedigree. Candidate genes were further screened for mutation through sequence analyses.

Results

Copy number analysis showed a microduplication at chromosome 10q24.31-q24.32 co-segregating with the SHFM phenotype. Compared to other known genomic duplications for SHFM3, the duplication described here contains two discontinuous DNA fragments. The minimal centromeric duplicated segment of 259 kb involves LBX1, POLL and a disrupted BTRC. The minimal telomeric duplication of 114 kb encompasses DPCD and one part of FBXW4. No coding and splice-site mutations of candidate genes in the region were found.

Conclusions

Genomic duplications at chromosome 10q24.3, which were identified in the current study, provide further evidence for limb-specific cis-regulatory sequences in this region, highlighting the importance of chromosome 10q24.31-q24.32 in limb development and SHFM pathogenesis.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/14/45/prepub

Title: Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation
Authors: Li Dai
Ying Deng
Nana Li
Liang Xie
Meng Mao
Jun Zhu
Publication date: 01-12-2013
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2013
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-14-45

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Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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