12p Deletion Spectrum Syndrome: a New Case Report Reinforces the Evidence Regarding the Potential Relationship to Autism Spectrum Disorder and Related Developmental Impairments

Overview

Journal Mol Cytogenet

Publisher Biomed Central

Specialty Biochemistry

Date 2016 Oct 7

PMID 27708715

Citations 4

Authors

Marcio Leyser

Bruno Leonardo Dias

Ana Luiza Coelho

Marcio Vasconcelos

Osvaldo J M Nascimento

Affiliations

Soon will be listed here.

Abstract

Background: Autism Spectrum Disorders (ASD) now encompass a broad heterogeneous group of people who present in the early developmental years with a wide range of social and communication deficits, which are typically also associated with complex repetitive behaviors and circumscribed interests. The target goal is to heighten readers' perception into the trend to personalize the distinct autistic and related developmental conditions encompassing the 12p region.

Case Presentation: This is a case-report of a 4-year-old male who presented the core signs of ASD, which were thought to be related to a rare 12p13.2 deletion. We further reviewed the literature in order to outline the related developmental conditions in the 12p region. Aside from this patient reported here, we found an additional number of 43 cases described in the medical literature since 1974, that have been related to deletions in the 12p region. However, to the best of our knowledge, none of the previous had been specifically linked to the 12p13.2 band.

Conclusions: The 12p deletion spectrum is rarely described as part of the selective genotypes thought to be related to ASD. Even inside of a small piece of the puzzle, there might be ample variation in the behavioral and clinical phenotypes of children and adults presenting with this particular genetic profile. In that regard, the particular 12p13.2 distal deletion presentation is one of the possible genotypes encompassed by the "12p deletion spectrum syndrome", that might be potentially connected to the diagnosis of ASD and related developmental disorders.

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References

Volkmar F, Siegel M, Woodbury-Smith M, King B, McCracken J, State M . Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder. J Am Acad Child Adolesc Psychiatry. 2014; 53(2):237-57. DOI: 10.1016/j.jaac.2013.10.013. View

Thebault P, Lhermite N, Tilly G, Le Texier L, Quillard T, Heslan M . The C-type lectin-like receptor CLEC-1, expressed by myeloid cells and endothelial cells, is up-regulated by immunoregulatory mediators and moderates T cell activation. J Immunol. 2009; 183(5):3099-108. DOI: 10.4049/jimmunol.0803767. View

Thevenon J, Callier P, Andrieux J, Delobel B, David A, Sukno S . 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech. Eur J Hum Genet. 2012; 21(1):82-8. PMC: 3522191. DOI: 10.1038/ejhg.2012.116. View

ORoak B, Deriziotis P, Lee C, Vives L, Schwartz J, Girirajan S . Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet. 2011; 43(6):585-9. PMC: 3115696. DOI: 10.1038/ng.835. View

Landgraf M, Nothacker M, Heinen F . Diagnosis of fetal alcohol syndrome (FAS): German guideline version 2013. Eur J Paediatr Neurol. 2013; 17(5):437-46. DOI: 10.1016/j.ejpn.2013.03.008. View

Billeke P, Aboitiz F . Social cognition in schizophrenia: from social stimuli processing to social engagement. Front Psychiatry. 2013; 4:4. PMC: 3580762. DOI: 10.3389/fpsyt.2013.00004. View

Vargas H, Beldia G, Korosh W, Sudhalter V, Iqbal A, Sanchez-Lacay J . A 4.5 Mb terminal deletion of chromosome 12p helps further define a psychosis-associated locus. Eur J Med Genet. 2012; 55(10):573-6. DOI: 10.1016/j.ejmg.2012.04.012. View

Marshall A, Willment J, Lin H, Williams D, Gordon S, Brown G . Identification and characterization of a novel human myeloid inhibitory C-type lectin-like receptor (MICL) that is predominantly expressed on granulocytes and monocytes. J Biol Chem. 2004; 279(15):14792-802. DOI: 10.1074/jbc.M313127200. View

Velinov M, Beldia G, Gu H, Tsiouris J, Jenkins E, Brown W . Psychotic manifestations in a patient with mental retardation and a 6.2 megabase deletion at the distal short arm of chromosome 12. CNS Spectr. 2008; 13(6):515-9. DOI: 10.1017/s1092852900016758. View

10.

Hoppe A, Heinemeyer J, Klopocki E, Graul-Neumann L, Spors B, Bittigau P . Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism. Meta Gene. 2015; 2:72-82. PMC: 4287802. DOI: 10.1016/j.mgene.2013.10.014. View

11.

Tarabeux J, Kebir O, Gauthier J, Hamdan F, Xiong L, Piton A . Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. Transl Psychiatry. 2012; 1:e55. PMC: 3309470. DOI: 10.1038/tp.2011.52. View

12.

Hansen S, Parner E . Cohort effects explain the increase in autism diagnosis: an identifiability problem of the age-period-cohort model. Int J Epidemiol. 2014; 43(6):1988-9. DOI: 10.1093/ije/dyu213. View

13.

Schopler E, Reichler R, DeVellis R, Daly K . Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS). J Autism Dev Disord. 1980; 10(1):91-103. DOI: 10.1007/BF02408436. View

14.

Murdoch J, State M . Recent developments in the genetics of autism spectrum disorders. Curr Opin Genet Dev. 2013; 23(3):310-5. DOI: 10.1016/j.gde.2013.02.003. View

15.

Baker E, Hinton L, Callen D, Haan E, Dobbie A, Sutherland G . A familial cryptic subtelomeric deletion 12p with variable phenotypic effect. Clin Genet. 2002; 61(3):198-201. DOI: 10.1034/j.1399-0004.2002.610305.x. View

16.

Tsang T, Lucas B, Carmichael Olson H, Pinto R, Elliott E . Prenatal Alcohol Exposure, FASD, and Child Behavior: A Meta-analysis. Pediatrics. 2016; 137(3):e20152542. DOI: 10.1542/peds.2015-2542. View

17.

Talkowski M, Rosenfeld J, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A . Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012; 149(3):525-37. PMC: 3340505. DOI: 10.1016/j.cell.2012.03.028. View

18.

Rooryck C, Stef M, Burgelin I, Simon D, Souakri N, Thambo J . 2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene. Eur J Med Genet. 2009; 52(6):446-9. DOI: 10.1016/j.ejmg.2009.08.005. View

19.

MAGNELLI N, THERMAN E . Partial 12p deletion: a cause for a mental retardation, multiple congenital abnormality syndrome. J Med Genet. 1975; 12(1):105-8. PMC: 1013240. DOI: 10.1136/jmg.12.1.105. View

20.

Bahring S, Nagai T, Toka H, Nitz I, Toka O, Aydin A . Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family. Am J Hum Genet. 1997; 60(3):732-5. PMC: 1712511. View