Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

Molecular Cytogenetics

Volumn 8, Issue 1, 2015, Pages

  Choucair, Nancy ^a,b,c   Mignon Ravix, Cecile ^b,c   Cacciagli, Pierre ^b,c,d   Abou Ghoch, Joelle ^a   Fawaz, Ali ^e   Mégarbané, André ^a,f   Villard, Laurent ^b,c   Chouery, Eliane ^a  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b AIX MARSEILLE UNIVERSITY   (France)

^c INSERM   (France)

^d TIMONE HOSPITAL   (France)

^e LEBANESE UNIVERSITY   (Lebanon)

^f Institute Jérôme Lejeune   (France)

Author keywords

Hearing loss; Intellectual disability; Monosomy 9p; Protein tyrosine phosphatase receptor delta; Trigonocephaly

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; PROTEIN TYROSINE PHOSPHATASE;

ALLELE; ARTICLE; CASE REPORT; CHILD; CRANIOFACIAL SYNOSTOSIS; CYTOGENETICS; FIBROBLAST; GENE; GENE AMPLIFICATION; GENE DELETION; GENETIC ASSOCIATION; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; LONG PHILTRUM; MALE; MIDFACE HYPOPLASIA; MONOSOMY; MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN INTERACTION; PTPRD GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

MUS;

EID: 84935826796     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/s13039-015-0149-0     Document Type: Article

References (23)

1. Kimonis V, Gold J-A, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007;14:150-61.
2. Vissers LELM, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, et al. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet. 2011;7:e1002278.
3. Greenwood J, Flodman P, Osann K, Boyadjiev SA, Kimonis V. Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis. Genet Med Off J Am Coll Med Genet. 2014;16:302-10.
4. Van der Meulen J, van der Hulst R, van Adrichem L, Arnaud E, Chin-Shong D, Duncan C, et al. The increase of metopic synostosis: a pan-European observation. J Craniofac Surg. 2009;20:283-6.
5. Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sá ME, Alberto FL, et al. Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clin Genet. 2005;67:503-10.
6. Mitsui N, Shimizu K, Nishimoto H, Mochizuki H, Iida M, Ohashi H. Patient with terminal 9 Mb deletion of chromosome 9p. Refining the critical region for 9p monosomy syndrome with trigonocephaly. Congenit Anom. 2013;53:49-53.
7. Ortiz B, Fabius AWM, Wu WH, Pedraza A, Brennan CW, Schultz N, et al. Loss of the tyrosine phosphatase PTPRD leads to aberrant STAT3 activation and promotes gliomagenesis. Proc Natl Acad Sci U S A. 2014;111:8149-54.
8. Schaapveld RQ, Schepens JT, Bächner D, Attema J, Wieringa B, Jap PH, et al. Developmental expression of the cell adhesion molecule-like protein tyrosine phosphatases LAR, RPTPdelta and RPTPsigma in the mouse. Mech Dev. 1998;77:59-62.
9. Mizuno K, Hasegawa K, Katagiri T, Ogimoto M, Ichikawa T, Yakura H. MPTP delta, a putative murine homolog of HPTP delta, is expressed in specialized regions of the brain and in the B-cell lineage. Mol Cell Biol. 1993;13:5513-23.
10. Uetani N, Kato K, Ogura H, Mizuno K, Kawano K, Mikoshiba K, et al. Impaired learning with enhanced hippocampal long-term potentiation in PTPdelta-deficient mice. EMBO J. 2000;19:2775-85.
11. Hendriks WJAJ, Elson A, Harroch S, Pulido R, Stoker A, den Hertog J. Protein tyrosine phosphatases in health and disease. FEBS J. 2013;280:708-30.
12. Takahashi H, Craig AM. Protein tyrosine phosphatases PTPδ, PTPσ, and LAR. presynaptic hubs for synapse organization. Trends Neurosci. 2013;36:522-34.
13. Yoshida T, Shiroshima T, Lee S-J, Yasumura M, Uemura T, Chen X, et al. Interleukin-1 receptor accessory protein organizes neuronal synaptogenesis as a cell adhesion molecule. J Neurosci Off J Soc Neurosci. 2012;32:2588-600.
14. Rose E, Bramham J, Young S, Paliokostas E, Xenitidis K. Neuropsychological characteristics of adults with comorbid ADHD and borderline/mild intellectual disability. Res Dev Disabil. 2009;30:496-502.
15. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010;466:368-72.
16. Elia J, Gai X, Xie HM, Perin JC, Geiger E, Glessner JT, et al. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry. 2010;15:637-46.
17. Swinkels MEM, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, et al. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet A. 2008;146A:1430-8.
18. Shimojima K, Yamamoto T. Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH. Am J Med Genet A. 2009;149A:1076-80.
19. Azimi C, Kennedy SJ, Chitayat D, Chakraborty P, Clarke JTR, Forrest C, et al. Clinical and genetic aspects of trigonocephaly: a study of 25 cases. Am J Med Genet A. 2003;117A:127-35.
20. Chiusaroli R, Knobler H, Luxenburg C, Sanjay A, Granot-Attas S, Tiran Z, et al. Tyrosine phosphatase epsilon is a positive regulator of osteoclast function in vitro and in vivo. Mol Biol Cell. 2004;15:234-44.
21. Girotto G, Pirastu N, Sorice R, Biino G, Campbell H, d' Adamo AP, et al. Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways. J Med Genet. 2011;48:369-74.
22. Girotto G, Vuckovic D, Buniello A, Lorente-Cánovas B, Lewis M, Gasparini P, et al. Expression and replication studies to identify new candidate genes involved in normal hearing function. PloS One. 2014;9:e85352.
23. Distel MA, Carlier A, Middeldorp CM, Derom CA, Lubke GH, Boomsma DI. Borderline personality traits and adult attention-deficit hyperactivity disorder symptoms: a genetic analysis of comorbidity. Am J Med Genet Part B Neuropsychiatr Genet Off Publ Int Soc Psychiatr Genet. 2011;156B:817-25.