Abstract：
:Autism spectrum disorder (ASD) is a set of neurodevelopmental conditions characterized by early-onset difficulties in social communication and unusually restricted, repetitive behavior and interests. Parental consanguinity may lead to higher risk of ASD and to more severe clinical presentations in the offspring. Studies of ASD families with high inbreeding enable the identification of inherited variants of this disorder particularly those with an autosomal recessive pattern of inheritance. In our study, using copy number variants (CNV) analysis, we identified a rare homozygous deletion in 2p11.2 region that affects ELMOD3, CAPG, and SH2D6 genes in a boy with ASD, intellectual disability (ID), and hearing impairment (HI). This deletion may reveal a new contiguous deletion syndrome in which ELMOD3, known to be implicated in autosomal recessive deafness underlies the HI of the proband and CAPG, member of actin regulatory proteins involved in cytoskeletal dynamic, an important function for brain development and activity, underlies the ASD/ID phenotype. A possible contribution of SH2D6 gene, as a part of a chimeric gene, to the clinical presentation of the patient is discussed. Our result supports the implication of ELMOD3 in hearing loss and highlights the potential clinical relevance of 2p11.2 deletion in autism and/or intellectual disability.
journal_name
J Appl Genetjournal_title
Journal of applied geneticsauthors
Lahbib S,Leblond CS,Hamza M,Regnault B,Lemée L,Mathieu A,Jaouadi H,Mkaouar R,Youssef-Turki IB,Belhadj A,Kraoua I,Bourgeron T,Abdelhak Sdoi
10.1007/s13353-018-0472-3subject
Has Abstractpub_date
2019-02-01 00:00:00pages
49-56issue
1eissn
1234-1983issn
2190-3883pii
10.1007/s13353-018-0472-3journal_volume
60pub_type
杂志文章abstract：:Recently, leaf rust and yellow rust caused by the fungi Puccinia triticina Erikss. and P. striiformis Westend f. sp. tritici Eriks and Henn are diseases of increasing threat in triticale (× Triticosecale Wittmack, AABBRR, 2n = 6x = 42) growing areas. The use of genetic resistance is considered the most economical, eff...
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journal_title：Journal of applied genetics
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doi：10.1007/s13353-010-0008-y
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journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
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journal_title：Journal of applied genetics
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journal_title：Journal of applied genetics
pub_type： 杂志文章
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journal_title：Journal of applied genetics
pub_type： 杂志文章
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journal_title：Journal of applied genetics
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doi：
更新日期：2004-01-01 00:00:00
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journal_title：Journal of applied genetics
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journal_title：Journal of applied genetics
pub_type： 杂志文章
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journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-012-0111-3
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journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-017-0390-9
更新日期：2017-08-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03194645
更新日期：2006-01-01 00:00:00
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pub_type： 杂志文章
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journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-020-00565-5
更新日期：2020-09-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-012-0105-1
更新日期：2012-11-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章
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journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：
更新日期：2002-01-01 00:00:00
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journal_title：Journal of applied genetics
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journal_title：Journal of applied genetics
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doi：
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更新日期：2001-01-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
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journal_title：Journal of applied genetics
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journal_title：Journal of applied genetics
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journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03195620
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journal_title：Journal of applied genetics
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doi：
更新日期：2001-01-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章
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journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
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更新日期：2018-08-01 00:00:00
