Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44

Sandesh C.Sreenath Nagamani, Ayelet Erez, Carolyn Bay, Anjana Pettigrew, Seema R. Lalani, Kristin Herman, Brett H. Graham, Malgorzata J.M. Nowaczyk, Monica Proud, William J. Craigen, Bobbi Hopkins, Beth Kozel, Katie Plunkett, Patricia Hixson, Pawel Stankiewicz, Ankita Patel, Sau Wai Cheung

Research output: Contribution to journalArticlepeer-review


Submicroscopic deletions involving chromosome 1q43-q44 result in cognitive impairment, microcephaly, growth restriction, dysmorphic features, and variable involvement of other organ systems. A consistently observed feature in patients with this deletion are the corpus callosal abnormalities (CCAs), ranging from thinning and hypoplasia to complete agenesis. Previous studies attempting to delineate the critical region for CCAs have yielded inconsistent results. We conducted a detailed clinical and molecular characterization of seven patients with deletions of chromosome 1q43-q44. Using array comparative genomic hybridization, we mapped the size, extent, and genomic content of these deletions. Four patients had CCAs, and shared the smallest region of overlap that contains only three protein coding genes, CEP170, SDCCAG8, and ZNF238. One patient with a small deletion involving SDCCAG8 and AKT3, and another patient with an intragenic deletion of AKT3 did not have any CCA, implying that the loss of these two genes is unlikely to be the cause of CCA. CEP170 is expressed extensively in the brain, and encodes for a protein that is a component of the centrosomal complex. ZNF238 is involved in control of neuronal progenitor cells and survival of cortical neurons. Our results rule out the involvement of AKT3, and implicate CEP170 and/or ZNF238 as novel genes causative for CCA in patients with a terminal 1q deletion.

Original languageEnglish
Pages (from-to)176-179
Number of pages4
JournalEuropean Journal of Human Genetics
Issue number2
StatePublished - Feb 2012
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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