Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

@article{Campbell2012Novel9G,
  title={Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A},
  author={Ian M Campbell and Svetlana A Yatsenko and Patricia M Hixson and Tyler E Reimschisel and Matthew Thomas and William Wilson and Usha Dayal and James W. Wheless and Amy Crunk and Cynthia L. Curry and Nicole Parkinson and Leona Fishman and M. D. James Riviello and Malgorzata J.M. Nowaczyk and Susan Zeesman and Jill A Rosenfeld and Bassem A. Bejjani and Lisa G Shaffer and Sau Wai Cheung and James R Lupski and Pawel Stankiewicz and Fernando Ossa Scaglia},
  journal={Genetics in Medicine},
  year={2012},
  volume={14},
  pages={868-876}
}
Purpose:A number of genes in the 9q34.11 region may be haploinsufficient. However, studies analyzing genotype–phenotype correlations of deletions encompassing multiple dosage-sensitive genes in the region are lacking.Methods:We mapped breakpoints of 10 patients with 9q34.11 deletions using high-resolution 9q34-specific array comparative genomic hybridization (CGH) to determine deletion size and gene content.Results:The 9q34.11 deletions range in size from 67 kb to 2.8 Mb. Six patients exhibit… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 19 CITATIONS

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.

  • American journal of medical genetics. Part A
  • 2018
VIEW 2 EXCERPTS
CITES BACKGROUND

From molecular mechanism to morphological changes in cardiomyopathy.

  • Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
  • 2016
VIEW 2 EXCERPTS
CITES BACKGROUND

References

Publications referenced by this paper.
SHOWING 1-10 OF 41 REFERENCES