NDLI: Duplication 16p11.2 in a child with infantile seizure disorder.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Bedoyan, Jirair K. Kumar, Ravinesh A. Sudi, Jyotsna Silverstein, Faye Ackley, Todd Iyer, Ramaswamy K. Christian, Susan L. Martin, Donna M.
Description	Country affiliation: United States Author Affiliation: Bedoyan JK ( Department of Pediatrics, The University of Michigan, Ann Arbor, Michigan 48109-5652, USA.)
Abstract	Submicroscopic recurrent 16p11.2 rearrangements are associated with several neurodevelopmental disorders, including autism, mental retardation, and schizophrenia. The common 16p11.2 region includes 24 known genes, of which 22 are expressed in the developing human fetal nervous system. As yet, the mechanisms leading to neurodevelopmental abnormalities and the broader phenotypes associated with deletion or duplication of 16p11.2 have not been clarified. Here we report a child with spastic quadriparesis, refractory infantile seizures, severe global developmental delay, hypotonia, and microcephaly, and a de novo 598 kb 16p11.2 microduplication. Family history is negative for any of these features in parents and immediate family members. Sequencing analyses showed no mutations in DOC2A, QPRT, and SEZ6L2, genes within the duplicated 16p11.2 region that have been implicated in neuronal function and/or seizure related phenotypes. The child's clinical course is consistent with a rare seizure disorder called malignant migrating partial seizure disorder of infancy, raising the possibility that duplication or disruption of genes in the 16p11.2 interval may contribute to this severe disorder.
File Format	HTM / HTML
ISSN	15524825
e-ISSN	15524833
DOI	10.1002/ajmg.a.33415
Journal	American Journal of Medical Genetics Part A
Issue Number	6
Volume Number	152A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-06-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Chromosome Aberrations Chromosomes, Human, Pair 16 Genetics Seizures Infant Syndrome Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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