Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

Sirisha Peddibhotla, Sandesh C.S. Nagamani, Ayelet Erez, Jill V. Hunter, J. Lloyd Holder, Mary E. Carlin, Patricia I. Bader, Helene M.F. Perras, Judith E. Allanson, Leslie Newman, Gayle Simpson, La Donna Immken, Erin Powell, Aaron Mohanty, Sung Hae L. Kang, Pawel Stankiewicz, Carlos A. Bacino, Weimin Bi, Ankita Patel, Sau W. Cheung

Research output: Contribution to journalArticle

26 Scopus citations

Abstract

Patients with terminal deletions of chromosome 6q present with structural brain abnormalities including agenesis of corpus callosum, hydrocephalus, periventricular nodular heterotopia, and cerebellar malformations. The 6q27 region harbors genes that are important for the normal development of brain and delineation of a critical deletion region for structural brain abnormalities may lead to a better genotype-phenotype correlation. We conducted a detailed clinical and molecular characterization of seven unrelated patients with deletions involving chromosome 6q27. All patients had structural brain abnormalities. Using array comparative genomic hybridization, we mapped the size, extent, and genomic content of these deletions. The smallest region of overlap spans 1.7 Mb and contains DLL1, THBS2, PHF10, and C6orf70 (ERMARD) that are plausible candidates for the causation of structural brain abnormalities. Our study reiterates the importance of 6q27 region in normal development of brain and helps identify putative genes in causation of structural brain anomalies.

Original languageEnglish (US)
Pages (from-to)54-60
Number of pages7
JournalEuropean Journal of Human Genetics
Volume23
Issue number1
DOIs
StatePublished - Jan 11 2015

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Peddibhotla, S., Nagamani, S. C. S., Erez, A., Hunter, J. V., Holder, J. L., Carlin, M. E., Bader, P. I., Perras, H. M. F., Allanson, J. E., Newman, L., Simpson, G., Immken, L. D., Powell, E., Mohanty, A., Kang, S. H. L., Stankiewicz, P., Bacino, C. A., Bi, W., Patel, A., & Cheung, S. W. (2015). Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27. European Journal of Human Genetics, 23(1), 54-60. https://doi.org/10.1038/ejhg.2014.51