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10p12.31

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Overview

10p12.31 and Autism, Summary

DNA Animate GIF Copy number variations (CNVs) appear to contribute significantly to autism spectrum disorder (ASD). A study of 42 extended ASD families by Salyakina & Cukierwas et al. (2011) identified several CNVs associated with ASD susceptibility. Namely, 12 CNVs in 11 families of European ancestry were identified and validated using TaqMan real-time PCR copy number assays. These include five deletions on 1p34.1, 2p24.2-p24.1, 6q11.1, 12q24.32, & 13q31.1 and seven duplications on 3p26.3, 4p16.3, 7p21.3, 10p12.31, 10q23.32, 15q11.2 & 15q24.1. Five of these CNVs at 7p21.3, 10p12.31, 10q23.32, 13q31.1 and 15q24.1 were not identified in control samples or in the database of genomics variants (DGV) database.

Molecular karyotyping by Wentzel et al. (2011) examined seven unrelated patients with partially overlapping microdeletions at 10p12.31p11.21 that ranged from 1.0 to 10.6 Mb. The smallest region of overlap (306 kb) included the WAC gene. All seven have developmental delay, with most showing abnormal behaviour and dysmorphic features (including bulbous nasal tip, deep set eyes, synophrys/thick eyebrows and full cheeks). All were visually impaired (six had cardiac malformations). One of the patients was diagnosed with autism spectrum disorder, and a second had autistic traits including repetitive behaviors and narrow interests.

References

1. Salyakina & Cukierwas et al. (2011). Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. PLoS One. 2011;6(10):e26049.

2. Wentzel et al. (2011). Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11. European Journal of Human Genetics. 2011 Sep;19(9):959-64.

Guidelines

At the time of writing, no guidelines specific to 10p12.31 have been published by any of the organizations listed below. (Relevant resources for each are hyper-linked)

Weblink to Clinical Pharmacogenetics Implementation Consortium Guidelines of PharmGKB Clinical Pharmacogenetics Implementation Consortium Guidelines (on PharmGKB)
CPIC was formed in 2009, as a shared project between PharmGKB and the Pharmacogenomics Research Network. Guidelines can be accessed here.


American College of Medical Genetics (ACMG) American College of Medical Genetics (ACMG) Policy Statements (agreement required)
ACMG maintains a number of policy statements regarding genomic and genetic testing, including recommendations for reporting of incidental findings in clinical exome and genome sequencing (linked).


Weblink to MedlinePlusThe US Food and Drug Administration (FDA) Pharmacogenomics Table
The FDA maintains an interactive table of pharmacogenomic biomarkers in drug labeling, covering a wide range of drugs, listing relevant recommendations and labeling.


eMERGE

The Children's Hospital of Philadelphia (CHOP) is the only eMERGE site returning results related to the 10p12.31 locus, which is identified as a risk factor for autism and developmental delay in children already diagnosed with autism spectrum disorder.

Publications

1. Salyakina & Cukierwas et al. (2011). Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. PLoS One. 2011;6(10):e26049.

2. Wentzel et al. (2011). Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11. European Journal of Human Genetics. 2011 Sep;19(9):959-64.

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When was this content last updated?
January 27, 2015.

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