Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Journal of Medical Case Reports
Published in: Journal of Medical Case Reports 1/2018

Open Access 01-12-2018 | Case report

An atypical autistic phenotype associated with a 2q13 microdeletion: a case report

Authors: Jokthan Guivarch, Clarisse Chatel, Jeremie Mortreux, Chantal Missirian, Nicole Philip, François Poinso

Published in: Journal of Medical Case Reports | Issue 1/2018

Login to get access

Abstract

Background

Autism spectrum disorders are serious neurodevelopmental disorders that affect approximately 1% of the population. These disorders are substantially influenced by genetics. Several recent linkage analyses have examined copy number variations associated with autism risk. Microdeletion of the 2q13 region is considered a pathogenic copy number variation. This microdeletion is involved in developmental delays, congenital heart defects, dysmorphism, and various psychiatric disorders, including autism spectrum disorders. There are only 34 reported cases with this chromosomal deletion, and five cases of autism spectrum disorders have been identified among them. The autistic phenotype associated with this microdeletion has never been described.

Case presentation

We describe the case of a 44-month-old Caucasian girl with the 2q13 microdeletion and autism spectrum disorders with global development delay but no associated organ anomalies. We examined the autistic phenotype using different workups and observed an atypical phenotype defined by relatively preserved relational competency and imitation abilities.

Conclusions

The main contribution of this case report is the precise description of the autistic phenotype in the case of this deletion. We observed some atypical clinical features that could be markers of this genetic anomaly. We have discussed the pathophysiology of autism associated with this microdeletion and its incomplete penetrance and variable expressivity.
Literature
1.
American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Washington, D.C: American Psychiatric Association; 2013. p. 947.CrossRef
2.
Amaral D, Dawson G, Geschwind DH. In: Fombonne E, Quircke S, Hagen A, editors. Epidemiology of pervasive developmental disorders. In: Autism spectrum disorders. New York: Oxford University Press; 2011.
3.
Demily C, Assouline M, Boddaert N, Barcia G, Besmond C, Poisson A, et al. Apports de la génétique au diagnostic des troubles du spectre autistique. Neuropsychiatr Enfance Adolesc. 2016;64(6):395–401.CrossRef
4.
5.
Bourgeron T. Current knowledge on the genetics of autism and propositions for future research. C R Biol. 2016;339(7–8):300–7.CrossRefPubMed
6.
Devlin B, Scherer SW. Genetic architecture in autism spectrum disorder. Curr Opin Genet Dev. 2012;22(3):229–37.CrossRefPubMed
7.
Hallmayer J, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T, et al. Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry. 2011;68(11):1095–102.CrossRefPubMedPubMedCentral
8.
Sealey LA, Hughes BW, Sriskanda AN, Guest JR, Gibson AD, Johnson-Williams L, et al. Environmental factors in the development of autism spectrum disorders. Environ Int. 2016;88:288–98.CrossRefPubMed
9.
Toro R, Konyukh M, Delorme R, Leblond C, Chaste P, Fauchereau F, et al. Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. Trends Genet TIG. 2010;26(8):363–72.CrossRefPubMed
10.
11.
Consortium AGP, Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007;39(3):319–28.CrossRef
12.
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011;43(9):838–46.CrossRefPubMedPubMedCentral
13.
Hladilkova E, Barøy T, Fannemel M, Vallova V, Misceo D, Bryn V, et al. A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms. Mol Cytogenet. 2015;8:57.CrossRefPubMedPubMedCentral
14.
Roberts JL, Hovanes K, Dasouki M, Manzardo AM, Butler MG. Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Gene. 2014;535(1):70–8.CrossRefPubMed
15.
Costain G, Lionel AC, Merico D, Forsythe P, Russell K, Lowther C, et al. Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. Hum Mol Genet. 2013;22(22):4485–501.CrossRefPubMedPubMedCentral
16.
Yu HE, Hawash K, Picker J, Stoler J, Urion D, Wu B-L, et al. A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism. Clin Genet. 2012;81(3):257–64.CrossRefPubMed
17.
Vuillaume M-L, Naudion S, Banneau G, Diene G, Cartault A, Cailley D, et al. New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity. Am J Med Genet A. 2014;164A(8):1965–75.CrossRefPubMed
18.
Bisgaard A-M, Kirchhoff M, Nielsen JE, Brandt C, Hove H, Jepsen B, et al. Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants? Eur J Med Genet. 2007;50(4):243–55.CrossRefPubMed
19.
Rudd MK, Keene J, Bunke B, Kaminsky EB, Adam MP, Mulle JG, et al. Segmental duplications mediate novel, clinically relevant chromosome rearrangements. Hum Mol Genet. 2009;18(16):2957–62.CrossRefPubMedPubMedCentral
20.
Russell MW, Raeker MO, Geisler SB, Thomas PE, Simmons TA, Bernat JA, et al. Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations. Hum Mol Genet. 2014;23(16):4272–84.CrossRefPubMed
21.
Riley KN, Catalano LM, Bernat JA, Adams SD, Martin DM, Lalani SR, et al. Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes. Am J Med Genet A. 2015;167A(11):2664–73.CrossRefPubMed
22.
23.
24.
25.
26.
27.
De Giacomo A, Craig F, Cristella A, Terenzio V, Buttiglione M, Margari L. Can PEP-3 Provide a Cognitive Profile in Children with ASD? A Comparison Between the Developmental Ages of PEP-3 and IQ of Leiter-R. J Appl Res Intellect Disabil JARID. 2016;29(6):566–73.CrossRefPubMed
28.
Portoghese C, Buttiglione M, Pavone F, Lozito V, De Giacomo A, Martinelli D, et al. The usefulness of the Revised Psychoeducational Profile for the assessment of preschool children with pervasive developmental disorders. Autism Int J Res Pract. 2009;13(2):179–91.CrossRef
29.
Viellard M, Da Fonseca D, De Martino S, Girardot A-M, Bastard-Rosset D, Duverger H, et al. Autisme et retard mental: étude de la communication sociale précoce. Arch Pediatr. 2007;14(3):234–8.CrossRefPubMed
30.
American Psychiatric Association, American Psychiatric Association, editor. Diagnostic and statistical manual of mental disorders: DSM-IV-TR. 4th ed., text revision. Washington, DC: American Psychiatric Association; 2000. p. 943.
31.
Chen S, Wang M, Yang H, Mao L, He Q, Jin H, et al. LncRNA TUG1 sponges microRNA-9 to promote neurons apoptosis by up-regulated Bcl2l11 under ischemia. Biochem Biophys Res Commun. 2017;485(1):167–73.CrossRefPubMed
32.
Araghi-Niknam M, Fatemi SH. Levels of Bcl-2 and P53 are altered in superior frontal and cerebellar cortices of autistic subjects. Cell Mol Neurobiol. 2003;23(6):945–52.CrossRefPubMed
33.
Sheikh AM, Li X, Wen G, Tauqeer Z, Brown WT, Malik M. Cathepsin D and apoptosis related proteins are elevated in the brain of autistic subjects. Neuroscience. 2010;165(2):363–70.CrossRefPubMed
34.
Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med. 2012;367(14):1321–31.CrossRefPubMedPubMedCentral
35.
Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, Chehadeh SE, et al. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey. Clin Genet. 2016;89(5):630–5.CrossRefPubMed
36.
Pichert G, Mohammed SN, Ahn JW, Ogilvie CM, Izatt L. Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridization: what are the issues? J Med Genet. 2011;48(8):535–9.CrossRefPubMed
37.
Nguyen K, Putoux A, Busa T, Cordier MP, Sigaudy S, Till M, Chabrol B, Michel-Calemard L, Bernard R, Julia S, Malzac P, Labalme A, Missirian C, Edery P, Popovici C, Philip N, Sanlaville D. Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history. Clin Genet. 2015;87(5):488–91.CrossRefPubMed
Metadata
Title
An atypical autistic phenotype associated with a 2q13 microdeletion: a case report
Authors
Jokthan Guivarch
Clarisse Chatel
Jeremie Mortreux
Chantal Missirian
Nicole Philip
François Poinso
Publication date
01-12-2018
Publisher
BioMed Central
Published in
Journal of Medical Case Reports / Issue 1/2018
Electronic ISSN: 1752-1947
DOI
https://doi.org/10.1186/s13256-018-1620-4

Other articles of this Issue 1/2018

Journal of Medical Case Reports 1/2018 Go to the issue

Case report

The importance of endoscopic ultrasound fine-needle aspiration in the diagnosis of solid pseudopapillary tumor of the pancreas: two case reports

Case report

Anaplastic carcinoma of the pancreas diagnosed by endoscopic ultrasound-guided fine-needle aspiration: a case report and review of the literature

Case report

An unusual case of extensive truncal cutaneous larva migrans in a Cameroonian baby: a case report

Case report

Unusual case of primary spontaneous hemopneumothorax in a young man with atypical tension pneumothorax: a case report

Case report

Aripiprazole-induced sleep-related eating disorder: a case report

Case report

Klebsiella pneumoniae liver abscess: a case report