A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

The American Journal of Human Genetics, Journal Year: 2018, Volume and Issue: 102(5), P. 943 - 955

Published: April 26, 2018

Language: Английский

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Large-scale analyses of the relationship between sex, age and intelligence quotient heterogeneity and cortical morphometry in autism spectrum disorder

Molecular Psychiatry, Journal Year: 2019, Volume and Issue: 25(3), P. 614 - 628

Published: April 26, 2019

Language: Английский

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A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

The American Journal of Human Genetics, Journal Year: 2018, Volume and Issue: 102(1), P. 142 - 155

Published: Jan. 1, 2018

Language: Английский

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Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

Molecular Autism, Journal Year: 2018, Volume and Issue: 9(1)

Published: April 27, 2018

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in has increased recent years due large-scale sequencing studies, systematic studies describing phenotype individuals harboring such lacking. We provide detailed clinical genetic data on 17 carrying SHANK3. review 60 previously patients with pathogenic or likely variants, often lacking phenotypic information. our cohort were distributed throughout protein; majority truncating all compatible de novo inheritance. Despite substantial allelic heterogeneity, four variants recurrent (p.Leu1142Valfs*153, p.Ala1227Glyfs*69, p.Arg1255Leufs*25, c.2265+1G>A), suggesting that these hotspots for mutations. All studied had intellectual disability, autism spectrum was prevalent (73%). Severe speech deficits common, contrast developed single words, including 41% at least phrase speech. Other common findings consistent reports among hypotonia, motor skill deficits, regression, seizures, brain abnormalities, mild dysmorphic features, feeding gastrointestinal problems. Haploinsufficiency resulting from sufficient cause broad range features associated PMS. Our expand molecular PMS suggest that, general, impairment more severe case deletions. In contrast, renal abnormalities deletions do not appear be related loss

Language: Английский

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Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

The American Journal of Human Genetics, Journal Year: 2019, Volume and Issue: 104(6), P. 1116 - 1126

Published: May 16, 2019

Language: Английский

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