title: A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism.
abstract: Chromosome 15q11-q13.1 duplication is a common copy number variant associated with autism spectrum disorder (ASD). Most cases arede novo, maternal in origin and fully penetrant for ASD. Here, we describe a unique family with an interstitial 15q11.2-q13.1 maternal duplication and the presence of somatic mosaicism in the mother. She is typically functioning, but formal autism testing showed mild ASD. She had several congenital anomalies, and she is the first 15q Duplication case reported in the literature to develop unilateral renal carcinoma. Her two affected children share some of these clinical characteristics, and have severe ASD. Several tissues in the mother, including blood, skin, a kidney tumor, and normal kidney margin tissues were studied for the presence of the 15q11-q13.1 duplication. We show the mother has somatic mosaicism for the duplication in several tissues to varying degrees. A growth competition assay in two types of stem cells from duplication 15q individuals was also performed. Our results suggest that the presence of this interstitial duplication 15q chromosome may confer a previously unknown growth advantage in this particular individual, but not in the general interstitial duplication 15q population.
authors.affiliation: Department of Neurology, University of Tennessee Health Science CenterMemphis, TN, USA; Pediatric Clinical Research Unit, Le Bonheur Children's HospitalMemphis, TN, USA.
authors.forename: Nora
authors.initials: N
authors.lastname: Urraca
authors.affiliation: Department of Pediatrics, University of Tennessee Health Science CenterMemphis, TN, USA; Neuroscience Institute, Le Bonheur Children's HospitalMemphis, TN, USA.
authors.forename: Brian
authors.initials: B
authors.lastname: Potter
authors.affiliation: Division of Developmental Medicine, Department of Pediatrics, Vanderbilt University School of Medicine Nashville, TN, USA.
authors.forename: Rachel
authors.initials: R
authors.lastname: Hundley
authors.affiliation: Department of Pediatrics, University of Tennessee Health Science CenterMemphis, TN, USA; Department of Ophthalmology, University of Tennessee Health Science CenterMemphis, TN, USA.
authors.forename: Eniko K
authors.initials: EK
authors.lastname: Pivnick
authors.affiliation: Department of Pediatrics, University of Tennessee Health Science Center Memphis, TN, USA.
authors.forename: Kathryn
authors.initials: K
authors.lastname: McVicar
authors.affiliation: Department of Neurology, Massachusetts General Hospital Boston, MA, USA.
authors.forename: Ronald L
authors.initials: RL
authors.lastname: Thibert
authors.affiliation: Department of Urology, University of Tennessee Health Science Center Memphis, TN, USA.
authors.forename: Christopher
authors.initials: C
authors.lastname: Ledbetter
authors.affiliation: Genetics Associates Inc., Nashville, TN USA.
authors.forename: Reed
authors.initials: R
authors.lastname: Chamberlain
authors.affiliation: Genetics Associates Inc., Nashville, TN USA.
authors.forename: Leticia
authors.initials: L
authors.lastname: Miravalle
authors.affiliation: Department of Genetics and Genome Sciences, University of Connecticut Health Center Farmington, CT, USA.
authors.forename: Carissa L
authors.initials: CL
authors.lastname: Sirois
authors.affiliation: Department of Genetics and Genome Sciences, University of Connecticut Health Center Farmington, CT, USA.
authors.forename: Stormy
authors.initials: S
authors.lastname: Chamberlain
authors.affiliation: Department of Neurology, University of Tennessee Health Science CenterMemphis, TN, USA; Department of Pediatrics, University of Tennessee Health Science CenterMemphis, TN, USA.
authors.forename: Lawrence T
authors.initials: LT
authors.lastname: Reiter
keywords: 15q duplication; autism; growth competition assay; renal carcinoma; somatic mosaicism; stem cells