A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism

Chromosome 15q11-q13.1 duplication is a common copy number variant associated with autism spectrum disorder (ASD). Most cases are , 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 mo...

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Published inFrontiers in genetics Vol. 7; p. 205
Main Authors Urraca, Nora, Potter, Brian, Hundley, Rachel, Pivnick, Eniko K., McVicar, Kathryn, Thibert, Ronald L., Ledbetter, Christopher, Chamberlain, Reed, Miravalle, Leticia, Sirois, Carissa L., Chamberlain, Stormy, Reiter, Lawrence T.
Format Journal Article
LanguageEnglish
Published Switzerland Frontiers Media S.A 25.11.2016
Subjects
15q duplication
Autism spectrum disorders (ASD)
Genetics
growth competition assay
renal carcinoma
Somatic Mosaicism
Stem Cells
stem cells
somatic mosaicism
renal carcinoma
15q duplication
autism
growth competition assay
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ISSN1664-8021
1664-8021
DOI10.3389/fgene.2016.00205

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Summary:Chromosome 15q11-q13.1 duplication is a common copy number variant associated with autism spectrum disorder (ASD). Most cases are , 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.
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Reviewed by: Michael E. Zwick, Emory University, USA; Alex Vincent Postma, University of Amsterdam, Netherlands
This article was submitted to Genetic Disorders, a section of the journal Frontiers in Genetics
Edited by: Enrico Baruffini, University of Parma, Italy
ISSN:1664-8021
1664-8021
DOI:10.3389/fgene.2016.00205