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Gene Review

ADFN  -  albinism-deafness syndrome

Homo sapiens

 
 
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Disease relevance of ADFN

 

High impact information on ADFN

  • As a first step toward identifying the ADFN gene, a linkage study was performed to localize the disease locus on the X chromosome [2].
  • X-linked albinism-deafness syndrome (ADFN) was described in one Israeli Jewish family and is characterized by congenital nerve deafness and piebaldness [2].
  • The ADFN mutation probably affects the migration of neural crest-derived precursors of the melanocytes [2].
  • Toward expression mapping of albinism-deafness syndrome (ADFN) locus on chromosome Xq26 [3].
  • We have constructed six cDNA libraries specific to six YACs mapping to a 1.5 mb span at the distal boundary of the ADFN locus [3].
 

Biological context of ADFN

 

Other interactions of ADFN

References

  1. Cochlear implantation for symptomatic hereditary deafness. Nishizaki, K., Fukushiama, K., Oda, Y., Masuda, A., Hayashi, S., Nagayasu, N., Yoshino, T., Kashihara, K., Takahashi, K., Masuda, Y. Acta oto-laryngologica. Supplementum. (1999) [Pubmed]
  2. Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I. Shiloh, Y., Litvak, G., Ziv, Y., Lehner, T., Sandkuyl, L., Hildesheimer, M., Buchris, V., Cremers, F.P., Szabo, P., White, B.N. Am. J. Hum. Genet. (1990) [Pubmed]
  3. Toward expression mapping of albinism-deafness syndrome (ADFN) locus on chromosome Xq26. Jacob, A.N., Kandpal, G., Gill, N., Kandpal, R.P. Somat. Cell Mol. Genet. (1998) [Pubmed]
  4. Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Amiel, J., Watkin, P.M., Tassabehji, M., Read, A.P., Winter, R.M. Clin. Dysmorphol. (1998) [Pubmed]
 
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