Pathology
germline mutations of FKTN in:
- Fukuyama congenital muscular dystrophy (FCMD) (MIM.253800)
- Walker-Warburg syndrome (MIM.236670)
- limb-girdle muscular dystrophy type 2M (LGMD2M) (MIM.611588)
- dilated cardiomyopathy type 1X (CMD1X) (MIM.611615)
References
Cotarelo RP, Valero MC, Prados B, Peña A, Rodríguez L, Fano O, Marco JJ, Martínez-Frías ML, Cruces J. Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. Clin Genet. 2008 Feb;73(2):139-45. PMID: 18177472
Beltran-Valero de Bernabe, D.; van Bokhoven, H.; van Beusekom, E.; Van den Akker, W.; Kant, S.; Dobyns, W. B.; Cormand, B.; Currier, S.; Hamel, B.; Talim, B.; Topaloglu, H.; Brunner, H. G. : A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J. Med. Genet. 40: 845-848, 2003. PubMed ID : 14627679
Colombo, R.; Bignamini, A. A.; Carobene, A.; Sasaki, J.; Tachikawa, M.; Kobayashi, K.; Toda, T. : Age and origin of the FCMD 3-prime-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population. Hum. Genet. 107: 559-567, 2000. PubMed ID : 11153909
Esapa, C. T.; Benson, M. A.; Schroder, J. E.; Martin-Rendon, E.; Brockington, M.; Brown, S. C.; Muntoni, F.; Kroger, S.; Blake, D. J. : Functional requirements for fukutin-related protein in the Golgi apparatus. Hum. Molec. Genet. 11: 3319-3331, 2002. PubMed ID : 12471058
Godfrey, C.; Escolar, D.; Brockington, M.; Clement, E. M.; Mein, R.; Jimenez-Mallebrera, C.; Torelli, S.; Feng, L.; Brown, S. C.; Sewry, C. A.; Rutherford, M.; Shapira, Y.; Abbs, S.; Muntoni, F. : Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann. Neurol. 60: 603-610, 2006. PubMed ID : 17044012
Hayashi, Y. K.; Ogawa, M.; Tagawa, K.; Noguchi, S.; Ishihara, T.; Nonaka, I.; Arahata, K. : Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology 57: 115-121, 2001. PubMed ID : 11445638
Kato, R.; Kawamura, J.; Sugawara, H.; Niikawa, N.; Matsumoto, N. : A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. Am. J. Med. Genet. 127A: 54-57, 2004.
Kobayashi, K.; Nakahori, Y.; Miyake, M.; Matsumura, K.; Kondo-Iida, E.; Nomura, Y.; Segawa, M.; Yoshioka, M.; Saito, K.; Osawa, M.; Hamano, K.; Sakakihara, Y.; Nonaka, I.; Nakagome, Y.; Kanazawa, I.; Nakamura, Y.; Tokunaga, K.; Toda, T. : An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394: 388-392, 1998. PubMed ID : 9690476
Kondo-Iida, E.; Kobayashi, K.; Watanabe, M.; Sasaki, J.; Kumagai, T.; Koide, H.; Saito, K.; Osawa, M.; Nakamura, Y.; Toda, T. : Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum. Molec. Genet. 8: 2303-2309, 1999. PubMed ID : 10545611
Murakami, T.; Hayashi, Y. K.; Noguchi, S.; Ogawa, M.; Nonaka, I.; Tanabe, Y.; Ogino, M.; Takada, F.; Eriguchi, M.; Kotooka, N.; Campbell, K. P.; Osawa, M.; Nishino, I. : Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann. Neurol. 60: 597-602, 2006. PubMed ID : 17036286
Saito, K.; Osawa, M.; Wang, Z.-P.; Ikeya, K.; Fukuyama, Y.; Kondo-Iida, E.; Toda, T.; Ohashi, H.; Kurosawa, K.; Wakai, S.; Kaneko, K. : Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. Am. J. Med. Genet. 92: 184-190, 2000. PubMed ID : 10817652
Sasaki, J.; Ishikawa, K.; Kobayashi, K.; Kondo-Iida, E.; Fukayama, M.; Mizusawa, H.; Takashima, S.; Sakakihara, Y.; Nakamura, Y.; Toda, T. : Neuronal expression of the fukutin gene. Hum. Molec. Genet. 9: 3083-3090, 2000. PubMed ID : 11115853
Silan, F.; Yoshioka, M.; Kobayashi, K.; Simsek, E.; Tunc, M.; Alper, M.; Cam, M.; Guven, A.; Fukuda, Y.; Kinoshita, M.; Kocabay, K.; Toda, T. : A new mutation of the fukutin gene in a non-Japanese patient. Ann. Neurol. 53: 392-396, 2003. PubMed ID : 12601708
Takeda, S.; Kondo, M.; Sasaki, J.; Kurahashi, H.; Kano, H.; Arai, K.; Misaki, K.; Fukui, T.; Kobayashi, K.; Tachikawa, M.; Imamura, M.; Nakamura, Y.; Shimizu, T.; Murakami, T.; Sunada, Y.; Fujikado, T.; Matsumura, K.; Terashima, T.; Toda, T. : Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development. Hum. Molec. Genet. 12: 1449-1459, 2003. PubMed ID : 12783852
Toda, T.; Miyake, M.; Kobayashi, K.; Mizuno, K.; Saito, K.; Osawa, M.; Nakamura, Y.; Kanazawa, I.; Nakagome, Y.; Yokunaga, K.; Nakahori, Y. : Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to less than 100 kb. Am. J. Hum. Genet. 59: 1313-1320, 1996. PubMed ID : 8940277
Watanabe, M.; Kobayashi, K.; Jin, F.; Park, K. S.; Yamada, T.; Tokunaga, K.; Toda, T. : Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and northeast Asian populations. Am. J. Med. Genet. 138A: 344-348, 2005.