Human Cytogenetics Case Report
A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patientVarela M.C.a · Krepischi-Santos A.C.V.b · Paz J.A.c · Knijnenburg J.d · Szuhai K.d · Rosenberg C.b · Koiffmann C.P.a
aHuman Genome Study Center, and bLaboratory of Human Genetics, Department of Genetics and Evolutionary Biology, University of São Paulo, cNeurology Unit, Children Institute, University of São Paulo, School of Medicine, São Paulo (Brazil); dLaboratory of Cytochemistry and Cytometry, Department of Molecular Cell Biology, Leiden University Medical Center, Leiden (The Netherlands)
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About 15% of patients with a clinical phenotype of Angelman syndrome (AS) have an unknown etiology. We report a patient with features reminiscent of AS, including a pattern of characteristic facial anomalies as well as speech impairment, developmental delay and frequent laughter. In addition, the patient had features not commonly associated with AS such as heart malformations and scoliosis. She was negative in SNURF-SNRPN exon 1 methylation studies and the G-banded karyotype was normal. Array-based comparative genomic hybridization disclosed a deletion of maximally 1 Mb at 17q21.31. The deleted region contains the MAPT gene, implicated in late onset neurodegenerative disorders, and the STH and NP_056258.1 genes. Another gene, such as CRHR1, might also be included based on maximum possible size of the deletion. We suggest that microdeletions within the 17q21.31 segment should be considered as a possible cause of phenotypes resembling AS, particularly when easily controlled seizures and/or cardiac abnormalities are also present.
© 2006 S. Karger AG, Basel
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