A novel microdeletion at chromosome 2q31.1‐31.2 in a three‐generation family presenting duplication of great toes with clinodactyly
- 28 April 2009
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 75 (5), 449-456
- https://doi.org/10.1111/j.1399-0004.2008.01147.x
Abstract
[[abstract]]HOXD gene cluster maps to chromosome 2q31 and plays a key role in embryonic limb morphogenesis. Mutations of the HOXD13 and HOXD10 genes have been found to be associated with digital and limb malformations. In addition, dysregulation of HOXD gene cluster has been proposed to account for the limb abnormalities in patients with chromosome 2q rearrangements. In this report, we investigated a three-generation family presenting clinical phenotypes of duplication of great toes, tapering fingers, and clinodactyly of the fifth finger in both hands, which were transmitted in a dominant fashion in this family. We identified and validated an interstitial microdeletion of ??.4Mb at chromosome 2q31.1-31.2 by array-based comparative genomic hybridization, fluorescence in situ hybridization, and real-time quantitative polymerase chain reaction that cosegregates with the clinical phenotypes in this family. The microdeletion removes 30 labeled genes including the entire HOXD gene cluster, suggesting that the digital abnormalities of this family may be attributed to the haploinsufficiency of the HOXD gene cluster. The delineation of the microdeletion region may contribute to the genotype-phenotype correlation study in patients with genomic rearrangements of the long arm of chromosome 2 and helps to understand the pathogenesis of haploinsufficiency of the HOXD gene clusterKeywords
This publication has 19 references indexed in Scilit:
- Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardationAmerican Journal of Medical Genetics Part A, 2007
- Clinical and molecular characterization of a patient with a 2q31.2‐32.3 deletion identified by array‐CGHAmerican Journal of Medical Genetics Part A, 2007
- 2q24–q31 Deletion: Report of a case and review of the literatureEuropean Journal of Medical Genetics, 2007
- Delineation of a 2q deletion in a girl with dysmorphic features and epilepsyAmerican Journal of Medical Genetics Part A, 2006
- Identification of disease genes by whole genome CGH arraysHuman Molecular Genetics, 2005
- The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patientsEuropean Journal of Medical Genetics, 2005
- Chromosome 2q terminal deletion: Report of 6 new patients and review of phenotype‐breakpoint correlations in 66 individualsAmerican Journal of Medical Genetics Part A, 2004
- Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal AbnormalitiesAmerican Journal of Human Genetics, 2003
- Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT MethodMethods, 2001
- A review of phenotype‐karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2American Journal of Medical Genetics, 1989