Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder

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ABSTRACT

Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital anomalies. The Human Genome CGH Microarray 60K confirmed the diagnosis of 12q deletion syndrome. This study made a review of the current literature comparing our patient with previously reported cases. These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion.

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Structural variation of chromosomes in autism spectrum disorder.

Christian Marshall, Abdul Noor, John Vincent … (2008)

Structural variation (copy number variation [CNV] including deletion and duplication, translocation, inversion) of chromosomes has been identified in some individuals with autism spectrum disorder (ASD), but the full etiologic role is unknown. We performed genome-wide assessment for structural abnormalities in 427 unrelated ASD cases via single-nucleotide polymorphism microarrays and karyotyping. With microarrays, we discovered 277 unbalanced CNVs in 44% of ASD families not present in 500 controls (and re-examined in another 1152 controls). Karyotyping detected additional balanced changes. Although most variants were inherited, we found a total of 27 cases with de novo alterations, and in three (11%) of these individuals, two or more new variants were observed. De novo CNVs were found in approximately 7% and approximately 2% of idiopathic families having one child, or two or more ASD siblings, respectively. We also detected 13 loci with recurrent/overlapping CNV in unrelated cases, and at these sites, deletions and duplications affecting the same gene(s) in different individuals and sometimes in asymptomatic carriers were also found. Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility. Our most compelling result discovered CNV at 16p11.2 (p = 0.002) (with characteristics of a genomic disorder) at approximately 1% frequency. Some of the ASD regions were also common to mental retardation loci. Structural variants were found in sufficiently high frequency influencing ASD to suggest that cytogenetic and microarray analyses be considered in routine clinical workup.

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A Short Review on the Current Understanding of Autism Spectrum Disorders

Hye-Ran Park, Jae Meen Lee, Hyo Eun Moon … (2016)

Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders characterized by a deficit in social behaviors and nonverbal interactions such as reduced eye contact, facial expression, and body gestures in the first 3 years of life. It is not a single disorder, and it is broadly considered to be a multi-factorial disorder resulting from genetic and non-genetic risk factors and their interaction. Genetic studies of ASD have identified mutations that interfere with typical neurodevelopment in utero through childhood. These complexes of genes have been involved in synaptogenesis and axon motility. Recent developments in neuroimaging studies have provided many important insights into the pathological changes that occur in the brain of patients with ASD in vivo. Especially, the role of amygdala, a major component of the limbic system and the affective loop of the cortico-striatothalamo-cortical circuit, in cognition and ASD has been proved in numerous neuropathological and neuroimaging studies. Besides the amygdala, the nucleus accumbens is also considered as the key structure which is related with the social reward response in ASD. Although educational and behavioral treatments have been the mainstay of the management of ASD, pharmacological and interventional treatments have also shown some benefit in subjects with ASD. Also, there have been reports about few patients who experienced improvement after deep brain stimulation, one of the interventional treatments. The key architecture of ASD development which could be a target for treatment is still an uncharted territory. Further work is needed to broaden the horizons on the understanding of ASD.

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Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.

Y Qiao, C Tyson, M Hrynchak … (2013)

Higher resolution whole-genome arrays facilitate the identification of smaller copy number variations (CNVs) and their integral genes contributing to autism and/or intellectual disability (ASD/ID). Our study describes the use of one of the highest resolution arrays, the Affymetrix(®) Cytogenetics 2.7M array, coupled with quantitative multiplex polymerase chain reaction (PCR) of short fluorescent fragments (QMPSF) for detection and validation of small CNVs. We studied 82 subjects with ASD and ID in total (30 in the validation and 52 in the application cohort) and detected putatively pathogenic CNVs in 6/52 cases from the application cohort. This included a 130-kb maternal duplication spanning exons 64-79 of the DMD gene which was found in a 3-year-old boy manifesting autism and mild neuromotor delays. Other pathogenic CNVs involved 4p14, 12q24.31, 14q32.31, 15q13.2-13.3, and 17p13.3. We established the optimal experimental conditions which, when applied to select small CNVs for QMPSF confirmation, reduced the false positive rate from 60% to 25%. Our work suggests that selection of small CNVs based on the function of integral genes, followed by review of array experimental parameters resulting in highest confirmation rate using multiplex PCR, may enhance the usefulness of higher resolution platforms for ASD and ID gene discovery. © 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd.

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Author and article information

Journal

Journal ID (nlm-ta): Einstein (Sao Paulo)

Journal ID (iso-abbrev): Einstein (Sao Paulo)

Journal ID (publisher-id): eins

Title: Einstein

Publisher: Instituto Israelita de Ensino e Pesquisa Albert Einstein

ISSN (Print): 1679-4508

ISSN (Electronic): 2317-6385

Publication date (Electronic, pub): 03 June 2020

Publication date (Electronic, collection): 2020

Volume: 18

Electronic Location Identifier: eRC5335

Affiliations

[1 ] orgnameUniversidade do Sul de Santa Catarina Tubarão SC Brazil originalUniversidade do Sul de Santa Catarina, Tubarão, SC, Brazil.

[2 ] orgnameUniversidade do Extremo Sul Catarinense Criciúma SC Brazil originalUniversidade do Extremo Sul Catarinense, Criciúma, SC, Brazil.

[3 ] orgnameHospital Nossa Senhora da Conceição Tubarão SC Brazil originalHospital Nossa Senhora da Conceição, Tubarão, SC, Brazil.

[1 ] Brasil original Universidade do Sul de Santa Catarina, Tubarão, SC, Brasil.

[2 ] Brasil original Universidade do Extremo Sul Catarinense, Criciúma, SC, Brasil.

[3 ] Brasil originalHospital Nossa Senhora da Conceição, Tubarão, SC, Brasil.

Author notes

Corresponding authors: Fernanda Coan Antunes Department of Biology, Medicine and Social Sciences, Universidade do Sul de Santa Catarina Avenida Pedro Zapelini, 1,798 Centro Zip code: 88701-480 − Tubarão, SC, Brazil Phone: (55 48) 99906-9929 E-mail: fernandacoan@ 123456hotmail.com

Autores correspondentes: Fernanda Coan Antunes Departamento de Biologia, Medicina e Ciências Sociais, Universidade do Sul de Santa Catarina Avenida Pedro Zapelini, 1.798 − Centro CEP: 88701-480 − Tubarão, SC, Brasil Tel.: (48) 99906-9929 E-mail: fernandacoan@hotmail.com

Author information

Jaime Lin https://orcid.org/0000-0002-7433-6231

Gigliolle Romancini de Souza-Lin https://orcid.org/0000-0001-9930-7288

Fernanda Coan Antunes https://orcid.org/0000-0001-5571-3321

Letícia Burato Wessler https://orcid.org/0000-0001-6700-0396

Emílio Luiz Streck https://orcid.org/0000-0002-2859-4678

Cinara Ludvig Gonçalves https://orcid.org/0000-0003-2468-8885

Article

Other ID: 00510

DOI: 10.31744/einstein_journal/2020RC5335

PMC ID: 7279891

SO-VID: 9f8c3565-b92c-49a4-86d8-147a04e8f89c

License:

This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

History

Date received : 18 August 2019

Date accepted : 29 November 2019

Page count

Figures: 4, Tables: 2, Equations: 0, References: 10

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De Novo Deletion in the 12q24.23q24.31 Chromosomal Region Causing a Neurodevelopmental Syndrome in a Female Saudi Patient: A Case Report
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