Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

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 informat...

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Published in:American journal of medical genetics. Part A Vol. 158A; no. 9; pp. 2152 - 2161
Main Authors: DeScipio, Cheryl, Conlin, Laura, Rosenfeld, Jill, Tepperberg, James, Pasion, Romela, Patel, Ankita, McDonald, Marie T., Aradhya, Swaroop, Ho, Darlene, Goldstein, Jennifer, McGuire, Marianne, Mulchandani, Surabhi, Medne, Livija, Rupps, Rosemarie, Serrano, Alvaro H., Thorland, Erik C., Tsai, Anne C.-H., Hilhorst-Hofstee, Yvonne, Ruivenkamp, Claudia A.L., Van Esch, Hilde, Addor, Marie-Claude, Martinet, Danielle, Mason, Thornton B.A., Clark, Dinah, Spinner, Nancy B., Krantz, Ian D.
Format: Journal Article
Language:English
Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-09-2012
Wiley-Liss
Wiley Subscription Services, Inc
Subjects:
10p15.3
Biological and medical sciences
Brain
Child
chromosomal microarray (CMA)
Chromosome Deletion
Chromosomes, Human, Pair 10
deletion
DIP2C
Female
Humans
Infant
Infant, Newborn
Male
Medical genetics
Medical sciences
Telomere
ZMYND11
Chromosomal aberration
Characterization
Symptomatology
10p15.3
Phenotype
chromosomal microarray (CMA)
Cytogenetics
Deletion
Chromosome
DIP2C
ZMYND11
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Summary: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. © 2012 Wiley Periodicals, Inc.
Bibliography:ark:/67375/WNG-C6DL98G0-2
ArticleID:AJMG35574
National Institutes of Health (NIDDK) (IDK) - No. 5 KO8 DK02541-02
How to Cite this Article: DeScipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, McDonald MT, Aradhya S, Ho D, Goldstein J, McGuire M, Mulchandani S, Medne L, Rupps R, Serrano AH, Thorland EC, Tsai AC-H, Hilhorst-Hofstee Y, Ruivenkamp CAL, Van Esch H, Addor M-C, Martinet D, Mason TBA, Clark D, Spinner NB, Krantz ID. 2012. Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization. Am J Med Genet Part A. 158A:2152-2161.
istex:048DEEA7B8D22967FA5D62C104A30DBADFD847C9
Wellcome Trust
How to Cite this Article: DeScipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, McDonald MT, Aradhya S, Ho D, Goldstein J, McGuire M, Mulchandani S, Medne L, Rupps R, Serrano AH, Thorland EC, Tsai AC‐H, Hilhorst‐Hofstee Y, Ruivenkamp CAL, Van Esch H, Addor M‐C, Martinet D, Mason TBA, Clark D, Spinner NB, Krantz ID. 2012. Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization. Am J Med Genet Part A. 158A:2152–2161.
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.35574