Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Moreno‐De‐Luca, Daniel; Mullé, Jennifer G.; Kaminsky, Erin B.; Sanders, Stephan; Myers, Scott M.; Adam, Margaret P; Pakula, Amy T.; Eisenhauer, Nancy; Uhas, Kim; Weik, LuAnn; Guy, Lisa; Care, Melanie E.; Morel, Chantal F.; Boni, Charlotte; Salbert, Bonnie Anne; Chandrareddy, Ashadeep; Demmer, Laurie A.; Chow, Eva W.C.; Surti, Urvashi; Aradhya, Swaroop; Pickering, Diane L.; Golden, Denae M.; Sanger, Warren G.; Aston, Emily; Brothman, Arthur R.; Gliem, Troy J.; Thorland, Erik C.; Ackley, Todd; Iyer, Ram; Huang, Shuwen; Barber, John; Crolla, John A.; Warren, Stephen T.; Martin, Christa Lese; Ledbetter, David H.

doi:10.1016/j.ajhg.2010.12.005

Cited by 41 publications

(56 citation statements)

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“…Recently, two additional patients have been reported by Dixit et al (Dixit et al, 2012), with variable neurocognitive involvement. Very interesting, rarely dysmorphic features for these patients have been documented (Bernardini et al, 2009;Moreno-De Luca and SGENE Consortium, 2010). Thus, with the evidence reported to date, the 17q12 deletions seem to be responsible for a wide range of phenotypes with considerable variability in expressivity and penetrance.…”

Section: Discussionmentioning

confidence: 63%

Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

Palumbo

Antona

Palumbo

et al. 2014

Gene

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Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. Also, microdeletions encompassing HNF1B were identified as a cause of Mayer-RokitanskyKüster-Hauser Syndrome (MRKH, OMIM 277000) in females and, recently, were associated with intellectual disability, autistic features, cerebral anomaly and facial dysmorphisms. In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay and autistic features. In addition, obesity was observed. In order to study the parental origin of the rearrangement, we analyzed selected SNPs in the deleted area in the patient and his parents, showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of maternal origin. Our case confirms the incomplete penetrance and variable expressivity of this deletion, its complex clinical variability, and strengthens the evidence that ID and stereotyped behaviors may be part of the phenotypic spectrum characterizing the affected patients. Also, it is useful to further delineate the phenotypes associated to the deletion being the first case in which obesity has been documented. We present a genotype-phenotype correlation discussing the possible role of some genes, encompassed by the deletion, in the etiology of the observed phenotypes.

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Section: Discussionmentioning

confidence: 63%

Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

Palumbo

Antona

Palumbo

et al. 2014

Gene

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“…This is a recurrent deletion that has been associated with multiple phenotypes including MODY5 and psychiatric disorders. [19][20][21] The deletion was apparent in three individuals, a woman and her two daughters. We hypothesized that these individuals had MODY5.…”

Section: Study Groupmentioning

confidence: 99%

Utilizing extended pedigree information for discovery and confirmation of copy number variable regions among Mexican Americans

et al. 2012

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“…Increasing evidence suggests that rare genetic variants of moderate to large effect size may play an important role in the development of neuropsychiatric disorders as demonstrated by several studies involving the genome-wide analysis of copy number variants (28,31,34). These results show an overlap in copy number variant loci in patients with schizophrenia, attention-deficit/hyperactivity disorder, and autism (28,31,34). The gene expression may depend on complicated interactions between genetic and environmental factors; for example, it is likely that schizophrenia develops as a result of an interaction between genetic liability and the negative impact of environmental factors (47).…”

Section: Developmental Disorders In "Adult Disguise"mentioning

confidence: 99%

Rethinking the Concept of Psychosis and the Link Between Autism and Schizophrenia

Aggernæs

2015

Scandinavian Journal of Child and Adolescent Psychiatry and Psychology

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Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Cited by 41 publications

References 0 publications

Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

Utilizing extended pedigree information for discovery and confirmation of copy number variable regions among Mexican Americans

Rethinking the Concept of Psychosis and the Link Between Autism and Schizophrenia

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