Exome sequencing of thousands of subjects with Autism Spectrum Disorder led to t

Question

Exome sequencing of thousands of subjects with Autism Spectrum Disorder led to the identification of a large number of candidate genes. Mutations in these candidate genes (single nucleotide polymorphisms and copy number variants) are often rare (Minor allele frequencies of <1%). There is an effort to identify many subjects with mutations in the same gene (colored circles and squares). Why is it helpful to have access to several unrelated subjects with different alleles of the same gene? a) To explore if subjects with the same mutation have a more similar clinical manifestation compared to ASD subjects with mutations in different genes. b) To identify epigenetic modifications of this gene in the blood of ASD subjects. c) To identify ASD families of the same ethnic background. d) To test if these mutations lead to changes in gene expression. e) To exclude the role of common variants in these genes in ASD.

Explanation / Answer

Autism spectrum disorder (ASD) is the name for a group of developmental disorders. ASD includes a wide range, “a spectrum,” of symptoms, skills, and levels of disability.

in about 2 to 4 percent of people with ASD, rare gene mutations or chromosome abnormalities are thought to be the cause of the condition, often as a feature of syndromes that also involve additional signs and symptoms affecting various parts of the body. For example, mutations in the ADNP gene cause a disorder called ADNP syndrome. In addition to ASD and intellectual disability, this condition involves distinctive facial features and a wide variety of other signs and symptoms. Some of the other genes in which rare mutations are associated with ASD, often with other signs and symptoms, are ARID1B, ASH1L, CHD2, CHD8, DYRK1A, POGZ, SHANK3, and SYNGAP1. In most individuals with ASD caused by rare gene mutations, the mutations occur in only a single gene.

. De novo CNVs may explain at least some of the “missing heritability” of ASD as understood to date. While it is clear that CNVs play an important role in susceptibility to ASD, it is also clear that the genetic penetrance of many of these CNVs is less than 100%. Although many of the duplications or deletions observed in children with ASD occur as de novo variants, duplications, for example on chromosome 16p11.2, often are inherited from an asymptomatic parent. Moreover, both deletions and duplications encompassing a portion of chromosome 16p11.2 have been associated with ASD and 16p11.2 gains have been associated with ADHD and schizophrenia , indicating that the same genomic region can be involved in multiple developmental conditions.

CNVs and point mutations in NRXN1 are thought to play a role in a subset of ASD cases as well as in other neuropsychiatric conditions.

so according to the information and genes involved in ASD answer is:-

a) To explore if subjects with the same mutation have a more similar clinical manifestation compared to ASD subjects with mutations in different genes

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