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Gene Review

DFN2  -  deafness, X-linked 2, perceptive, congenital

Homo sapiens

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Disease relevance of DFN2


Psychiatry related information on DFN2


High impact information on DFN2


Chemical compound and disease context of DFN2


Biological context of DFN2


Anatomical context of DFN2


Associations of DFN2 with chemical compounds


Regulatory relationships of DFN2


Other interactions of DFN2

  • DFN2 represents a locus for congenital profound sensorineural hearing loss that has yet to be mapped [36].
  • BACKGROUND: Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disorder mainly caused by mutations in the nephrin gene (NPHS1) [37].
  • BACKGROUND: Congenital atrial standstill has been linked to SCN5A [38].
  • Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic [39].
  • We thus examined the human SHH gene in 220 newborn infants with nonsyndromic oral clefts registered by the Estudio Colaborativo Latinoamericano de Malformaciones Congenitas: ECLAMC (Latin American Collaborative Study of Congenital Malformations) [40].

Analytical, diagnostic and therapeutic context of DFN2


  1. Facial nerve anomalies in association with congenital hearing loss. Al-Mazrou, K.A., Alorainy, I.A., Al-Dousary, S.H., Richardson, M.A. Int. J. Pediatr. Otorhinolaryngol. (2003) [Pubmed]
  2. Letter: Congenital rubella and autistic behavior. Swisher, C.N., Swisher, L. N. Engl. J. Med. (1975) [Pubmed]
  3. Images in clinical medicine. Congenital long-QT syndrome. Benhorin, J., Medina, A. N. Engl. J. Med. (1997) [Pubmed]
  4. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. International Congenital Lipoid Adrenal Hyperplasia Consortium. Bose, H.S., Sugawara, T., Strauss, J.F., Miller, W.L. N. Engl. J. Med. (1996) [Pubmed]
  5. Images in clinical medicine. Congenital hemangioma. Bonifazi, E., Mileti, F. N. Engl. J. Med. (1999) [Pubmed]
  6. Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation. Pasutto, F., Sticht, H., Hammersen, G., Gillessen-Kaesbach, G., Fitzpatrick, D.R., Nurnberg, G., Brasch, F., Schirmer-Zimmermann, H., Tolmie, J.L., Chitayat, D., Houge, G., Fernandez-Martinez, L., Keating, S., Mortier, G., Hennekam, R.C., von der Wense, A., Slavotinek, A., Meinecke, P., Bitoun, P., Becker, C., Nurnberg, P., Reis, A., Rauch, A. Am. J. Hum. Genet. (2007) [Pubmed]
  7. Too Many Trees to See the Forest: Performance, Event-related Potential, and Functional Magnetic Resonance Imaging Manifestations of Integrative Congenital Prosopagnosia. Bentin, S., Degutis, J.M., D'Esposito, M., Robertson, L.C. Journal of cognitive neuroscience (2007) [Pubmed]
  8. Maternal diseases, alcohol consumption and smoking during pregnancy associated with reduction limb defects. Aro, T. Early Hum. Dev. (1983) [Pubmed]
  9. Congenital ocular motor apraxia with autosomal dominant inheritance. Phillips, P.H., Brodsky, M.C., Henry, P.M. Am. J. Ophthalmol. (2000) [Pubmed]
  10. Association between maternal panic disorders and pregnancy complications and delivery outcomes. Bánhidy, F., Acs, N., Puhó, E., Czeizel, A.E. Eur. J. Obstet. Gynecol. Reprod. Biol. (2006) [Pubmed]
  11. Current concepts in genetics. Congenital malformations. Holmes, L.B. N. Engl. J. Med. (1976) [Pubmed]
  12. Letter: Congenital folate deficiency. Su, P.C. N. Engl. J. Med. (1976) [Pubmed]
  13. Is Bendectin a teratogen? Cordero, J.F., Oakley, G.P., Greenberg, F., James, L.M. JAMA (1981) [Pubmed]
  14. Abnormal esophageal motility in children with congenital central hypoventilation syndrome. Faure, C., Viarme, F., Cargill, G., Navarro, J., Gaultier, C., Trang, H. Gastroenterology (2002) [Pubmed]
  15. Clinical manifestations, management, and molecular genetics in congenital factor VII deficiency: the International Registry on Congenital Factor VII Deficiency (IRF7). Mariani, G., Herrmann, F.H., Bernardi, F., Schved, J.F., Auerswald, G., Ingerslev, J. Blood (2000) [Pubmed]
  16. Single amino acid substitutions in the reactive site of antithrombin leading to thrombosis. Congenital substitution of arginine 393 to cysteine in antithrombin Northwick Park and to histidine in antithrombin Glasgow. Erdjument, H., Lane, D.A., Panico, M., Di Marzo, V., Morris, H.R. J. Biol. Chem. (1988) [Pubmed]
  17. Long-term follow-up of homograft function after pulmonary valve replacement in patients with tetralogy of Fallot. Oosterhof, T., Meijboom, F.J., Vliegen, H.W., Hazekamp, M.G., Zwinderman, A.H., Bouma, B.J., van Dijk, A.P., Mulder, B.J. Eur. Heart J. (2006) [Pubmed]
  18. Serine-deficiency syndromes. de Koning, T.J., Klomp, L.W. Curr. Opin. Neurol. (2004) [Pubmed]
  19. Population-based case control study of the safety of sulfasalazine use during pregnancy. Nørgård, B., Czeizel, A.E., Rockenbauer, M., Olsen, J., Sørensen, H.T. Aliment. Pharmacol. Ther. (2001) [Pubmed]
  20. Refinement of the locus for non-syndromic sensorineural deafness (DFN2). Cui, B., Zhang, H., Lu, Y., Zhong, W., Pei, G., Kong, X., Hu, L. J. Genet. (2004) [Pubmed]
  21. Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21. Manolis, E.N., Eavey, R.D., Sangwatanaroj, S., Halpin, C., Rosenbaum, S., Watkins, H., Jarcho, J., Seidman, C.E., Seidman, J.G. The American journal of otology. (1999) [Pubmed]
  22. Cardiorespiratory responses to exercise of patients with aortic stenosis, pulmonary stenosis, and ventricular septal defect. Driscoll, D.J., Wolfe, R.R., Gersony, W.M., Hayes, C.J., Keane, J.F., Kidd, L., O'Fallon, W.M., Pieroni, D.R., Weidman, W.H. Circulation (1993) [Pubmed]
  23. Trends in pyloric stenosis incidence, Atlanta, 1968 to 1982. Lammer, E.J., Edmonds, L.D. J. Med. Genet. (1987) [Pubmed]
  24. The birth prevalence rates for the skeletal dysplasias. Orioli, I.M., Castilla, E.E., Barbosa-Neto, J.G. J. Med. Genet. (1986) [Pubmed]
  25. Image of the month. Congenital colonic duplication, sigmoid volvulus, Meckel's diverticulum, and emphysematous cystitis are considered in the differential diagnosis before surgery. Mehta, S., Barkun, A.N. Gastroenterology (1997) [Pubmed]
  26. Clinical profile of congenital coronary artery anomalies with origin from the wrong aortic sinus leading to sudden death in young competitive athletes. Basso, C., Maron, B.J., Corrado, D., Thiene, G. J. Am. Coll. Cardiol. (2000) [Pubmed]
  27. Pulmonary thrombosis in adults with Eisenmenger syndrome. Silversides, C.K., Granton, J.T., Konen, E., Hart, M.A., Webb, G.D., Therrien, J. J. Am. Coll. Cardiol. (2003) [Pubmed]
  28. Novel Fibroblast Growth Factor Receptor 1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism with and without Anosmia. Trarbach, E.B., Costa, E.M., Versiani, B., de Castro, M., Baptista, M.T., Garmes, H.M., de Mendonca, B.B., Latronico, A.C. J. Clin. Endocrinol. Metab. (2006) [Pubmed]
  29. Congenital urethroperineal fistula. Bates, D.G., Lebowitz, R.L. Radiology. (1995) [Pubmed]
  30. Letter: Congenital malformations and vinyl chloride. Edmonds, L.D., Falk, H., Nissim, J.E. Lancet (1975) [Pubmed]
  31. Letter: Congenital anomalies and clomiphene. Ylikorkala, O. Lancet (1975) [Pubmed]
  32. Mutations in the Translated Region of the Lactase Gene (LCT) Underlie Congenital Lactase Deficiency. Kuokkanen, M., Kokkonen, J., Enattah, N.S., Ylisaukko-Oja, T., Komu, H., Varilo, T., Peltonen, L., Savilahti, E., Jarvela, I. Am. J. Hum. Genet. (2006) [Pubmed]
  33. Molecular Model of Human CYP21 Based on Mammalian CYP2C5: Structural Features Correlate with Clinical Severity of Mutations Causing Congenital Adrenal Hyperplasia. Robins, T., Carlsson, J., Sunnerhagen, M., Wedell, A., Persson, B. Mol. Endocrinol. (2006) [Pubmed]
  34. Vascular Reactivity in Congenital Hypogonadal Men before and after Testosterone Replacement Therapy. Bernini, G., Versari, D., Moretti, A., Virdis, A., Ghiadoni, L., Bardini, M., Taurino, C., Canale, D., Taddei, S., Salvetti, A. J. Clin. Endocrinol. Metab. (2006) [Pubmed]
  35. Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R). Pohlenz, J., Pfarr, N., Kr??ger, S., Hesse, V. Acta Paediatr. (2006) [Pubmed]
  36. Mapping of DFN2 to Xq22. Tyson, J., Bellman, S., Newton, V., Simpson, P., Malcolm, S., Pembrey, M.E., Bitner-Glindzicz, M. Hum. Mol. Genet. (1996) [Pubmed]
  37. Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach. Gigante, M., Monno, F., Roberto, R., Laforgia, N., Assael, M.B., Livolti, S., Caringella, A., La Manna, A., Masella, L., Iolascon, A. J. Nephrol. (2002) [Pubmed]
  38. Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms. Makita, N., Sasaki, K., Groenewegen, W.A., Yokota, T., Yokoshiki, H., Murakami, T., Tsutsui, H. Heart rhythm : the official journal of the Heart Rhythm Society. (2005) [Pubmed]
  39. Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic. Westphal, V., Xiao, M., Kwok, P.Y., Freeze, H.H. Hum. Mutat. (2003) [Pubmed]
  40. Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population. Orioli, I.M., Vieira, A.R., Castilla, E.E., Ming, J.E., Muenke, M. Am. J. Med. Genet. (2002) [Pubmed]
  41. Feasibility of neonatal screening for toxoplasma infection in the absence of prenatal treatment. Danish Congenital Toxoplasmosis Study Group . Lebech, M., Andersen, O., Christensen, N.C., Hertel, J., Nielsen, H.E., Peitersen, B., Rechnitzer, C., Larsen, S.O., Nørgaard-Pedersen, B., Petersen, E. Lancet (1999) [Pubmed]
  42. Guidelines for pediatric therapeutic cardiac catheterization. A statement for health professionals from the Committee on Congenital Cardiac Defects of the Council on Cardiovascular Disease in the Young, the American Heart Association. Allen, H.D., Driscoll, D.J., Fricker, F.J., Herndon, P., Mullins, C.E., Snider, A.R., Taubert, K.A. Circulation (1991) [Pubmed]
  43. Second natural history study of congenital heart defects. Materials and methods. O'Fallon, W.M., Crowson, C.S., Rings, L.J., Weidman, W.H., Driscoll, D.J., Gersony, W.M., Hayes, C.J., Keane, J.F., Kidd, L., Pieroni, D.R. Circulation (1993) [Pubmed]
  44. Arrhythmias in patients with valvar aortic stenosis, valvar pulmonary stenosis, and ventricular septal defect. Results of 24-hour ECG monitoring. Wolfe, R.R., Driscoll, D.J., Gersony, W.M., Hayes, C.J., Keane, J.F., Kidd, L., O'Fallon, W.M., Pieroni, D.R., Weidman, W.H. Circulation (1993) [Pubmed]
  45. Cardiopulmonary function in adult patients late after Fontan repair. Harrison, D.A., Liu, P., Walters, J.E., Goodman, J.M., Siu, S.C., Webb, G.D., Williams, W.G., McLaughlin, P.R. J. Am. Coll. Cardiol. (1995) [Pubmed]
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