Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization
- 27 July 2012
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 158A (9), 2152-2161
- https://doi.org/10.1002/ajmg.a.35574
Abstract
We describe 19 unrelated individuals with submicroscopic deletions involving 10p15.3 characterized by chromosomal microarray (CMA). Interestingly, to our knowledge, only two individuals with isolated, submicroscopic 10p15.3 deletion have been reported to date; however, only limited clinical information is available for these probands and the deleted region has not been molecularly mapped. Comprehensive clinical history was obtained for 12 of the 19 individuals described in this study. Common features among these 12 individuals include: cognitive/behavioral/developmental differences (11/11), speech delay/language disorder (10/10), motor delay (10/10), craniofacial dysmorphism (9/12), hypotonia (7/11), brain anomalies (4/6) and seizures (3/7). Parental studies were performed for nine of the 19 individuals; the 10p15.3 deletion was de novo in seven of the probands, not maternally inherited in one proband and inherited from an apparently affected mother in one proband. Molecular mapping of the 19 individuals reported in this study has identified two genes, ZMYND11 (OMIM 608668) and DIP2C (OMIM 611380; UCSC Genome Browser), mapping within 10p15.3 which are most commonly deleted. Although no single gene has been identified which is deleted in all 19 individuals studied, the deleted region in all but one individual includes ZMYND11 and the deleted region in all but one other individual includes DIP2C. There is not a clearly identifiable phenotypic difference between these two individuals and the size of the deleted region does not generally predict clinical features. Little is currently known about these genes complicating a direct genotype/phenotype correlation at this time. These data however, suggest that ZMYND11 and/or DIP2C haploinsufficiency contributes to the clinical features associated with 10p15 deletions in probands described in this study.Keywords
This publication has 9 references indexed in Scilit:
- Molecular and clinical characterization of patients with overlapping 10p deletionsAmerican Journal of Medical Genetics Part A, 2010
- Fine‐mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individualsAmerican Journal of Medical Genetics Part A, 2008
- Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilitiesJournal of Medical Genetics, 2006
- Genetic alterations of the KLF6 gene in gastric cancerOncogene, 2005
- A third member of the RNA-specific adenosine deaminase gene family, ADAR3, contains both single- and double-stranded RNA binding domainsRNA, 2000
- Prediction of the Coding Sequences of Unidentified Human Genes. XIII. The Complete Sequences of 100 New cDNA Clones from Brain Which Code for Large Proteins in vitroDNA Research, 1999
- BRAM1, a BMP receptor‐associated molecule involved in BMP signallingGenes to Cells, 1998
- Farnesyl-diphosphate synthase is localized in peroxisomes.Online Journal of Public Health Informatics, 1994