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

Cheryl Descipio, Laura Conlin, Jill Rosenfeld, James Tepperberg, Romela Pasion, Ankita Patel, Marie T. McDonald, Swaroop Aradhya, Darlene Ho, Jennifer Goldstein, Marianne McGuire, Surabhi Mulchandani, Livija Medne, Rosemarie Rupps, Alvaro H. Serrano, Erik C. Thorland, Anne Tsai, Yvonne Hilhorst-Hofstee, Claudia A L Ruivenkamp, Hilde Van EschMarie Claude Addor, Danielle Martinet, Thornton B A Mason, Dinah Clark, Nancy B. Spinner, Ian D. Krantz

Research output: Contribution to journalArticle

19 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)2152-2161
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number9
DOIs
StatePublished - Sep 2012
Externally publishedYes

Fingerprint

Chromosome Deletion
Cytogenetics
Genetic Databases
Genes
Language Development Disorders
Language Disorders
Haploinsufficiency
Muscle Hypotonia
Chromosome Mapping
Genetic Association Studies
Seizures
Brain

Keywords

  • 10p15.3
  • Chromosomal microarray (CMA)
  • Deletion
  • DIP2C
  • ZMYND11

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Descipio, C., Conlin, L., Rosenfeld, J., Tepperberg, J., Pasion, R., Patel, A., ... Krantz, I. D. (2012). Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization. American Journal of Medical Genetics, Part A, 158 A(9), 2152-2161. https://doi.org/10.1002/ajmg.a.35574

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

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 9, 09.2012, p. 2152-2161.

Research output: Contribution to journalArticle

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, A, Hilhorst-Hofstee, Y, Ruivenkamp, CAL, Van Esch, H, Addor, MC, Martinet, D, Mason, TBA, Clark, D, Spinner, NB & Krantz, ID 2012, 'Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization', American Journal of Medical Genetics, Part A, vol. 158 A, no. 9, pp. 2152-2161. https://doi.org/10.1002/ajmg.a.35574
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 ; 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. / Subtelomeric deletion of chromosome 10p15.3 : Clinical findings and molecular cytogenetic characterization. In: American Journal of Medical Genetics, Part A. 2012 ; Vol. 158 A, No. 9. pp. 2152-2161.
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AU - Pasion, Romela

AU - Patel, Ankita

AU - McDonald, Marie T.

AU - Aradhya, Swaroop

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AU - Goldstein, Jennifer

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AU - Thorland, Erik C.

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AU - Van Esch, Hilde

AU - Addor, Marie Claude

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