De novo 4q35.2 duplication containing <scp><i>FAT1</i></scp> is associated with autism spectrum disorder

Hernando‐Davalillo, Cristina; Martín, Adrián Alcalá San; Prats, Mar Borregan; Ortigoza‐Escobar, Juan Darío

doi:10.1111/cge.14194

Cited by 3 publications

(2 citation statements)

References 10 publications

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“…Two studies reported that FAT1 is a susceptibility gene for bipolar disorder [87,88], although this association was not replicated in the other study [89]. Other studies reported that FAT1 was implicated in autism spectrum disorders [90][91][92]. These data suggest that genetic variants of FAT1 might be associated with psychiatric conditions.…”

Section: Discussionmentioning

confidence: 93%

Whole Genome Sequencing Revealed Inherited Rare Oligogenic Variants Contributing to Schizophrenia and Major Depressive Disorder in Two Families

Chung

Huang

Fang

et al. 2023

IJMS

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Schizophrenia and affective disorder are two major complex mental disorders with high heritability. Evidence shows that rare variants with significant clinical impacts contribute to the genetic liability of these two disorders. Also, rare variants associated with schizophrenia and affective disorders are highly personalized; each patient may carry different variants. We used whole genome sequencing analysis to study the genetic basis of two families with schizophrenia and major depressive disorder. We did not detect de novo, autosomal dominant, or recessive pathogenic or likely pathogenic variants associated with psychiatric disorders in these two families. Nevertheless, we identified multiple rare inherited variants with unknown significance in the probands. In family 1, with singleton schizophrenia, we detected four rare variants in genes implicated in schizophrenia, including p.Arg1627Trp of LAMA2, p.Pro1338Ser of CSMD1, p.Arg691Gly of TLR4, and Arg182X of AGTR2. The p.Arg691Gly of TLR4 was inherited from the father, while the other three were inherited from the mother. In family 2, with two affected sisters diagnosed with major depressive disorder, we detected three rare variants shared by the two sisters in three genes implicated in affective disorders, including p.Ala4551Gly of FAT1, p.Val231Leu of HOMER3, and p.Ile185Met of GPM6B. These three rare variants were assumed to be inherited from their parents. Prompted by these findings, we suggest that these rare inherited variants may interact with each other and lead to psychiatric conditions in these two families. Our observations support the conclusion that inherited rare variants may contribute to the heritability of psychiatric disorders.

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Section: Discussionmentioning

confidence: 93%

Whole Genome Sequencing Revealed Inherited Rare Oligogenic Variants Contributing to Schizophrenia and Major Depressive Disorder in Two Families

Chung

Huang

Fang

et al. 2023

IJMS

View full text Add to dashboard Cite

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“…Six of these genes, represented by 13 SNPs, have known associations with autism. For instance, both deletions and duplications of 4q35.2 involving the FAT1 gene have been found in autism, while animal models show the gene is expressed both within embryonic nervous system and postnatal cerebellum within the plasma membrane, soma, neurites, and postsynaptic densities [27][28][29]. Meanwhile, deletions of 2q37, including FARP2 and PASK genes, have been found in autism, leading to their downregulated expression [30,31].…”

Section: Discussionmentioning

confidence: 99%

Enrichment of Rare and Uncommon Neanderthal Polymorphisms in Autistic Probands and Siblings

Pauly,

Johnson,

Feltus

et al. 2023

Preprint

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Homo sapiensand Neanderthals underwent hybridization during the Middle/Upper Paleolithic age, culminating in retention of small amounts of Neanderthal-derived DNA in the modern human genome. In the current study, we address the potential roles genic Neanderthal single nucleotide polymorphisms (SNP) may be playing in autism susceptibility using data from the Simons Foundation Powering Autism Research (SPARK) and Genotype-Tissue Expression (GTEx) databases. We have discovered that rare and uncommon variants are significantly enriched in both European- and African-American autistic probands and their unaffected siblings compared to race-matched controls. In addition, we have identified 51 SNPs (p51) significantly enriched in European-American cases of autism, 13 of which fall within autism-associated genes, as well as 1 SNP in African-American probands. In addition, SNPs within the p51 network display significant linkage disequilibrium with one another, indicating they may more often be co-inherited in autism. These results strongly suggest Neanderthal-derived DNA is playing a significant role in autism susceptibility across major populations in the United States.

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Molecular cytogenetic characterization of del(X)(p22.33)mat and de novo dup(4)(q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly

Chen

Huang

Chen

et al. 2023

Taiwanese Journal of Obstetrics and Gynecology

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De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder

Cited by 3 publications

References 10 publications

Whole Genome Sequencing Revealed Inherited Rare Oligogenic Variants Contributing to Schizophrenia and Major Depressive Disorder in Two Families

Whole Genome Sequencing Revealed Inherited Rare Oligogenic Variants Contributing to Schizophrenia and Major Depressive Disorder in Two Families

Enrichment of Rare and Uncommon Neanderthal Polymorphisms in Autistic Probands and Siblings

Molecular cytogenetic characterization of del(X)(p22.33)mat and de novo dup(4)(q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly

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