A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders − Case report

1American Psychiatric Association, 2013. Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Washington, DC: American Psychiatric Association. American Psychiatric Association 2013 Diagnostic and Statistical Manual of Mental Disorders. 5th ed Washington, DC American Psychiatric Association10.1176/appi.books.9780890425596Search in Google Scholar

2Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-764. Miller DT Adam MP Aradhya S Biesecker LG Brothman AR Carter NP et al Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Am J Hum Genet 201086 5 749 76410.1016/j.ajhg.2010.04.006286900020466091Search in Google Scholar

3Uchida K, Oga A, Mano T, Nagatsuka H, Ueyama Y, Sasaki K. Screening for DNA copy number aberrations in mucinous adenocarcinoma arising from the minor salivary gland: two case reports. Cancer Genet Cytogenet. 2010;203(2):324-327. Uchida K Oga A Mano T Nagatsuka H Ueyama Y Sasaki K Screening for DNA copy number aberrations in mucinous adenocarcinoma arising from the minor salivary gland: two case reports Cancer Genet Cytogenet 2010203 2 324 32710.1016/j.cancergencyto.2010.08.02721156253Search in Google Scholar

4Butler MG, Usrey KM, Roberts JL, Manzardo AM, Schroeder SR. 20q13.2-q13.33 deletion syndrome: A case report. J Pediatr Genet. 2013;2(3):157-161. Butler MG Usrey KM Roberts JL Manzardo AM Schroeder SR 20q13.2-q13.33 deletion syndrome: A case report J Pediatr Genet 20132 3 157 161Search in Google Scholar

5Garin I, Elli FM, Linglart A, Silve C, de Sanctis L, Bordogna P, et al, on behalf of International clinical group for PHP, and EuroPHP Consortium. Novel microdeletions affecting the gnas locus in pseudohypoparathyroidism: characterization of the underlying mechanisms. J Clin Endocrinol Metab. 2015;100(4):E681-687. Garin I Elli FM Linglart A Silve C de Sanctis L Bordogna P et al on behalf of International clinical group for PHP, and EuroPHP Consortium Novel microdeletions affecting the gnas locus in pseudohypoparathyroidism: characterization of the underlying mechanisms. J Clin Endocrinol Metab 2015100 4 E681 68710.1210/jc.2014-309825594858Search in Google Scholar

6Lee JR. Protein tyrosine phosphatase PTPRT as a regulator of synaptic formation and neuronal development. BMB Rep. 2015;48(5):249-255. Lee JR Protein tyrosine phosphatase PTPRT as a regulator of synaptic formation and neuronal development BMB Rep 201548 5 249 25510.5483/BMBRep.2015.48.5.037Search in Google Scholar

7Allen-Brady K, Robison R, Cannon D, Varvil T, Villalobos M, Pingree C, et al. Genome-wide linkage in Utah autism pedigrees. Mol Psychiatry. 2010;15(10):1006-1015. Allen-Brady K Robison R Cannon D Varvil T Villalobos M Pingree C et al Genome-wide linkage in Utah autism pedigrees Mol Psychiatry 201015 10 1006 101510.1038/mp.2009.42402391319455147Search in Google Scholar

8Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S. Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry. 2008 63(12):1111-1117. Christian SL Brune CW Sudi J Kumar RA Liu S Karamohamed S Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder Biol Psychiatry 2008 63 12 1111 111710.1016/j.biopsych.2008.01.009244034618374305Search in Google Scholar

9Huguet G, Ey E, Bourgeron T. The genetic landscapes of autism spectrum disorders. Annu Rev Genomics Hum Genet. 2013;14:191-213. Huguet G Ey E Bourgeron T The genetic landscapes of autism spectrum disorders Annu Rev Genomics Hum Genet 201314191 21310.1146/annurev-genom-091212-15343123875794Search in Google Scholar

10Rajamani TK, O’Neill B, Han DD, Frostholm A, Rotter A, Gu HH. Inactivation of the catalytic phosphatase domain of PTPRT/RPTPρ increases social interaction in mice. Autism Res. 2015;8(1):19-28. Rajamani TK O’Neill B Han DD Frostholm A Rotter A Gu HH Inactivation of the catalytic phosphatase domain of PTPRT/RPTPρ increases social interaction in mice Autism Res 20158 1 19 2810.1002/aur.1390897046324895325Search in Google Scholar

11Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, et al. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. J Med Genet. 2013;50(12):802-811. Schuurs-Hoeijmakers JH Vulto-van Silfhout AT Vissers LE van de Vondervoort II van Bon BW de Ligt J et al Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing J Med Genet 201350 12 802 81110.1136/jmedgenet-2013-10164424123876Search in Google Scholar

12Licis AK, Desruisseau DM, Yamada KA, Duntley SP, Gurnett CA. Novel genetic findings in an extended family pedigree with sleepwalking. Neurology 2011;4;76(1):49-52. Licis AK Desruisseau DM Yamada KA Duntley SP Gurnett CA Novel genetic findings in an extended family pedigree with sleepwalking Neurology 2011476 1 49 5210.1212/WNL.0b013e318203e964303022621205695Search in Google Scholar

13Brim H, Abu-Asab MS, Nouraie M, Salazar J, Deleo J, Razjouyan H, et al. An integrative CGH, MSI and candidate genes methylation analysis of colorectal tumors. PLoS One. 2014;27;9(1):e82185. Brim H Abu-Asab MS Nouraie M Salazar J Deleo J Razjouyan H et al An integrative CGH, MSI and candidate genes methylation analysis of colorectal tumors PLoS One 2014279 1 e8218510.1371/journal.pone.0082185390347224475022Search in Google Scholar

14Ni B, Ma H, Lin Y, Dai J, Guo X, Xia Y, et al. Genetic variants in Ser-Arg protein-coding genes are associated with the risk of nonobstructive azoospermia in Chinese men. Fertil Steril. 2014;101(6):1711-1717. Ni B Ma H Lin Y Dai J Guo X Xia Y et al Genetic variants in Ser-Arg protein-coding genes are associated with the risk of nonobstructive azoospermia in Chinese men Fertil Steril 2014101 6 1711 171710.1016/j.fertnstert.2014.02.03324661730Search in Google Scholar

15Li J, Bench AJ, Piltz S, Vassiliou G, Baxter EJ, Ferguson-Smith AC, et al. L3mbtl, the mouse orthologue of the imprinted L3MBTL, displays a complex pattern of alternative splicing and escapes genomic imprinting. Genomics 2005;86(4):489-494. Li J Bench AJ Piltz S Vassiliou G Baxter EJ Ferguson-Smith AC et al L3mbtl, the mouse orthologue of the imprinted L3MBTL, displays a complex pattern of alternative splicing and escapes genomic imprinting Genomics 200586 4 489 49410.1016/j.ygeno.2005.06.01216081246Search in Google Scholar

16Bench AJ, Li J, Huntly BJ, Delabesse E, Fourouclas N, Hunt AR, et al. Characterization of the imprinted polycomb gene L3MBTL, a candidate 20q tumour suppressor gene, in patients with myeloid malignancies. Br J Haematol. 2004;127(5):509-518. Bench AJ Li J Huntly BJ Delabesse E Fourouclas N Hunt AR et al Characterization of the imprinted polycomb gene L3MBTL, a candidate 20q tumour suppressor gene, in patients with myeloid malignancies Br J Haematol 2004127 5 509 51810.1111/j.1365-2141.2004.05278.x15566354Search in Google Scholar