Contiguous mutation syndrome in the era of high-throughput sequencing

Molecular Genetics and Genomic Medicine

Volumn 3, Issue 3, 2015, Pages 215-220

  Langouet, Maeva ^a   Siquier Pernet, Karine ^a   Sanquer, Sylvia ^b   Bole Feysot, Christine ^a   Nitschke, Patrick ^a   Boddaert, Nathalie ^a,b   Munnich, Arnold ^a   Mancini, Grazia M S ^c   Barouki, Robert ^b   Amiel, Jeanne ^b   Colleaux, Laurence ^a  

^a INSERM   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

AP4 deficiency syndrome; Intellectual deficiency; Obesity; Whole exome sequencing; Zinc 2 glycoprotein

Indexed keywords

EID: 84978401309     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.134     Document Type: Article

References (29)

1. Abdollahpour, H., M. Alawi, F. Kortum, M. Beckstette, E. Seemanova, V. Komarek, et al. 2015. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. Eur. J. Hum. Genet. 23:256–259.
2. Abou Jamra, R., O. Philippe, A. Raas-Rothschild, S. H. Eck, E. Graf, R. Buchert, et al. 2011. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am. J. Hum. Genet. 88:788–795.
3. Balaz, M., M. Vician, Z. Janakova, T. Kurdiova, M. Surova, R. Imrich, et al. 2014. Subcutaneous adipose tissue zinc-alpha2-glycoprotein is associated with adipose tissue and whole-body insulin sensitivity. Obesity (Silver Spring) 22:1821–1829.
4. Bauer, P., E. Leshinsky-Silver, L. Blumkin, N. Schlipf, C. Schroder, J. Schicks, et al. 2012. Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47). Neurogenetics 13:73–76.
5. Blumkin, L., T. Lerman-Sagie, D. Lev, K. Yosovich, and E. Leshinsky-Silver. 2011. A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. J. Neurol. Sci. 305:67–70.
6. Garrido-Sanchez, L., E. Garcia-Fuentes, D. Fernandez-Garcia, X. Escote, J. Alcaide, P. Perez-Martinez, et al. 2012. Zinc-alpha 2-glycoprotein gene expression in adipose tissue is related with insulin resistance and lipolytic genes in morbidly obese patients. PLoS One 7:e33264.
7. Harlalka, G. V., E. L. Baple, H. Cross, S. Kuhnle, M. Cubillos-Rojas, K. Matentzoglu, et al. 2013. Mutation of HERC2 causes developmental delay with Angelman-like features. J. Med. Genet. 50:65–73.
8. Huang, J., M. Sabater-Lleal, F. W. Asselbergs, D. Tregouet, S. Y. Shin, J. Ding, et al. 2012. Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. Blood 120:4873–4881.
9. Kong, X. F., A. Bousfiha, A. Rouissi, Y. Itan, A. Abhyankar, V. Bryant, et al. 2013. A novel homozygous p. R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. PLoS One 8:e58286.
10. Lemmers, R. J., R. Tawil, L. M. Petek, J. Balog, G. J. Block, G. W. Santen, et al. 2012. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat. Genet. 44:1370–1374.
11. Li, W. D., D. Li, S. Wang, S. Zhang, H. Zhao, and R. A. Price. 2003. Linkage and linkage disequilibrium mapping of genes influencing human obesity in chromosome region 7q22.1-7q35. Diabetes 52:1557–1561.
12. Moreno-De-Luca, A., S. L. Helmers, H. Mao, T. G. Burns, A. M. Melton, K. R. Schmidt, et al. 2011. Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. J. Med. Genet. 48:141–144.
13. Mracek, T., Q. Ding, T. Tzanavari, K. Kos, J. Pinkney, J. Wilding, et al. 2010a. The adipokine zinc-alpha2-glycoprotein (ZAG) is downregulated with fat mass expansion in obesity. Clin. Endocrinol. 72:334–341.
14. Mracek, T., D. Gao, T. Tzanavari, Y. Bao, X. Xiao, C. Stocker, et al. 2010b. Downregulation of zinc-{alpha}2-glycoprotein in adipose tissue and liver of obese ob/ob mice and by tumour necrosis factor-alpha in adipocytes. J. Endocrinol. 204:165–172.
15. Najmabadi, H., H. Hu, M. Garshasbi, T. Zemojtel, S. S. Abedini, W. Chen, et al. 2011. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478:57–63.
16. Philippe, O. 2012. Approche genetique des deficiences intellectuelles: Contributions physiopathologiques et correlations genotypes-phenotypes. Human health and pathology. Thesis, Universite Rene Descartes, Paris, French.
17. Prokudin, I., C. Simons, J. R. Grigg, R. Storen, V. Kumar, Z. Y. Phua, et al. 2014. Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. Eur. J. Hum. Genet. 22:907–915.
18. Puffenberger, E. G., R. N. Jinks, H. Wang, B. Xin, C. Fiorentini, E. A. Sherman, et al. 2012. A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. Hum. Mutat. 33:1639–1646.
19. Rolli, V., M. Radosavljevic, V. Astier, C. Macquin, I. Castan-Laurell, V. Visentin, et al. 2007. Lipolysis is altered in MHC class I zinc-alpha(2)-glycoprotein deficient mice. FEBS Lett. 581:394–400.
20. Russell, S. T., and M. J. Tisdale. 2012. Role of beta-adrenergic receptors in the oral activity of zinc-alpha2-glycoprotein (ZAG). Endocrinology 153:4696–4704.
21. Sanghera, D. K., and P. R. Blackett. 2012. Type 2 diabetes genetics: beyond GWAS. J. Diabetes Metab. 3:pii: 6948.
22. Schaffer, A. A. 2013. Digenic inheritance in medical genetics. J. Med. Genet. 50:641–652.
23. Schmickel, R. D. 1986. Contiguous gene syndromes: a component of recognizable syndromes. J. Pediatr. 109:231–241.
24. Sell, S. M., O. Altungoz, A. A. Prowse, A. M. Meloni, U. Surti, and A. A. Sandberg. 1998. Molecular analysis of chromosome 7q21.3 in uterine leiomyoma: analysis using markers with linkage to insulin resistance. Cancer Genet. Cytogenet. 100:165–168.
25. Selva, D. M., A. Lecube, C. Hernandez, J. A. Baena, J. M. Fort, and R. Simo. 2009. Lower zinc-alpha2-glycoprotein production by adipose tissue and liver in obese patients unrelated to insulin resistance. J. Clin. Endocrinol. Metab. 94:4499–4507.
26. Sim, X., R. T. Ong, C. Suo, W. T. Tay, J. Liu, D. P. Ng, et al. 2011. Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. PLoS Genet. 7: e1001363.
27. Tuysuz, B., K. Bilguvar, N. Kocer, C. Yalcinkaya, O. Caglayan, E. Gul, et al. 2014. Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features. Am. J. Med. Genet. A 164:1677–1685.
28. Verkerk, A. J., R. Schot, B. Dumee, K. Schellekens, S. Swagemakers, A. M. Bertoli-Avella, et al. 2009. Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am. J. Hum. Genet. 85:40–52.
29. Zhu, H. J., C. X. Dong, H. Pan, X. C. Ping, N. S. Li, Y. F. Dai, et al. 2012. rs4215 SNP in zinc-alpha2-glycoprotein gene is associated with obesity in Chinese north Han population. Gene 500:211–215.