Abstract
Mental retardation (MR) is not a common feature observed in patients with classical ectodermal dysplasias (EDs). Several genes responsible for EDs and MR have been identified. However, the causation has yet to be identified in a significant number of patients with either ED or MR. Here, we have molecularly characterized a de novo balanced translocation t(1;6)(p22.1;p22.1) in a female patient who had mild features of ED with hypodontia, microcephaly, and cognitive impairment. Mapping of the translocation breakpoints in the patient revealed no obvious causative gene for either ED or MR. Whole genome array CGH analysis unveiled two novel submicroscopic deletions at 2q12.2 and 6q22.3, unrelated to the translocation in the patient. The 2q12.2 deletion contains a known ED gene, ectodysplasin-A receptor (EDAR), and the loss of one copy of this gene is considered to be responsible for the ectodermal phenotype in the patient. It is plausible that a potential autosomal MR gene deleted at 2q12.2 or 6q22.3 is likely the cause of the neurodevelopmental defects in the patient.
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Acknowledgements
We are grateful to the patient and the parents for participation in this study. We thank Cindy Skinner for assistance in the collection of patient material and Rachel Griggs for technical assistance. This study was approved by the Institutional Review Board of Self Regional Healthcare, the IRB of record for the GGC and was supported by a grant from NICHD (R01 HD39331) to AKS.
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Griggs, B., Ladd, S., Decker, A. et al. Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus. Eur J Hum Genet 17, 30–36 (2009). https://doi.org/10.1038/ejhg.2008.183
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DOI: https://doi.org/10.1038/ejhg.2008.183
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