The many faces of KIF7

Human Genome Variation

Volumn 2, Issue 1, 2015, Pages

  Barakeh, Duna ^a   Faqeih, Eissa ^b   Anazi, Shams ^a   Al Dosari, Mohammed S ^c   Softah, Ameen ^d   Albadr, Fahad ^e   Hassan, Hamdy ^e   Alazami, Anas M ^a   Alkuraya, Fowzan S ^a,f  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING FAHAD MEDICAL CITY   (Saudi Arabia)

^c KING SAUD UNIVERSITY   (Saudi Arabia)

^d KING FAHD ARMED FORCES HOSPITAL   (Saudi Arabia)

^e KING SAUD UNIVERSITY   (Saudi Arabia)

^f ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 85010209661     PISSN: None     EISSN: 2054345X     Source Type: Journal    
DOI: 10.1038/HGV.2015.6     Document Type: Review

References (25)

1. Baker K, Beales PL. Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet 2009; 4: 281–295.
2. Waters AM, Beales PL. Ciliopathies: an expanding disease spectrum. Pediatr Nephrol 2011; 26: 1039–1056.
3. Shaheen R, Faqeih E, Alshammari MJ, Swaid A, Al-Gazali L, Mardawi E et al. Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes. Eur J Hum Genet 2012; 21: 762–768.
4. Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G et al. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet 2011; 43: 601–606.
5. Alkuraya FS. Homozygosity mapping: one more tool in the clinical geneticist's toolbox. Genet Med 2010; 12: 236–239.
6. Wierenga KJ, Jiang Z, Yang AC, Mulvihill JJ, Tsinoremas NF. A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents. Genet Med 2012; 15: 354–360.
7. Klejnot M, Kozielski F. Structural insights into human Kif7, a kinesin involved in Hedgehog signalling. Acta Crystallogr D Biol Crystallogr 2012; 68(Pt 2): 154–159.
8. Miki H, Setou M, Kaneshiro K, Hirokawa N. All kinesin superfamily protein, KIF, genes in mouse and human. Proc Natl Acad Sci USA 2001; 98: 7004–7011.
9. Varjosalo M, Taipale J. Hedgehog: functions and mechanisms. Genes Dev 2008; 22: 2454–2472.
10. Endoh-Yamagami S, Evangelista M, Wilson D, Wen X, Theunissen JW, Phamluong K et al. The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development. Curr Biol 2009; 19: 1320–1326.
11. Bay SN, Caspary T. What are those cilia doing in the neural tube? Cilia 2012; 1: 19.
12. Liem KF Jr, He M, Ocbina PJ, Anderson KV. Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling. Proc Natl Acad Sci USA 2009; 106: 13377–13382.
13. Liu CZ, Yang JT, Yoon JW, Villavicencio E, Pfendler K, Walterhouse D et al. Characterization of the promoter region and genomic organization of GLI, a member of the Sonic Hedgehog-Patched signaling pathway. Gene 1998; 209(1-2): 1–11.
14. Schinzel A, Schmid W. Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome. Am J Med Genet 1980; 6: 241–249.
15. Mee L, Honkala H, Kopra O, Vesa J, Finnila S, Visapaa I et al. Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. Hum Mol Genet 2005; 14: 1475–1488.
16. Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC et al. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest 2011; 121: 2662–2667.
17. Ali BR, Silhavy JL, Akawi NA, Gleeson JG, Al-Gazali L. A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. Orphanet J Rare Dis 2012; 7: 27.
18. Aykut A, Cogulu O, Ekmekci AY, Ozkinay F. An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia. Genet Couns 2008; 19: 237–240.
19. Fryns JP, Spaepen A, Grubben C, van den Berghe H, Casaer P. The variable clinical spectrum and mental prognosis of the acrocallosal syndrome. J Med Genet 1991; 28: 214–215.
20. Koenig R, Bach A, Woelki U, Grzeschik KH, Fuchs S. Spectrum of the acrocallosal syndrome. Am J Med Genet 2002; 108: 7–11.
21. Philip N, Apicella N, Lassman I, Ayme S, Mattei JF, Giraud F. The acrocallosal syndrome. Eur J Pediatr 1988; 147: 206–208.
22. Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A et al. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. J Med Genet 2012; 49: 713–720.
23. Schinzel A. The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance. JMed Genet 1988; 25: 332–336.
24. Temtamy SA, Meguid NA. Hypogenitalism in the acrocallosal syndrome. Am J Med Genet 1989; 32: 301–305.
25. Turolla L, Clementi M, Tenconi R. How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case. J Med Genet 1990; 27: 516–518.