Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)

European Journal of Human Genetics

Volumn 24, Issue 12, 2016, Pages 1752-1760

  Monroe, Glen R ^a   Kappen, Isabelle F P M ^a   Stokman, Marijn F ^a   Terhal, Paulien A ^a   Van Den Boogaard, Marie José H ^a   Savelberg, Sanne M C ^a   Van Der Veken, Lars T ^a   Van Es, Robert J J ^a   Lens, Susanne M ^a   Hengeveld, Rutger C ^a   Creton, Marijn A ^a   Janssen, Nard G ^a   Mink Van Der Molen, Aebele B ^a   Ebbeling, Michelle B ^a   Giles, Rachel H ^a   Knoers, Nine V ^a   Van Haaften, Gijs ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; NEVER IN MITOSIS GENE A RELATED KINASE 1; PROTEIN KINASE; UNCLASSIFIED DRUG; NEK1 PROTEIN, HUMAN; NIMA RELATED KINASE 1; STOP CODON;

ADOLESCENT; ALTERNATIVE RNA SPLICING; ARTICLE; BROTHER; CASE REPORT; CELL COUNT; CELL SIZE; CHILD; CILIATED EPITHELIUM; CONTROLLED STUDY; DNA DETERMINATION; EXOME; FACE MALFORMATION; FEMALE; FIBROBLAST; FINGER MALFORMATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; INFANT; MALE; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; MOUTH MALFORMATION; NONSENSE MUTATION; ORAL FACIAL DIGITAL SYNDROME TYPE II; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT; CELL CULTURE; CILIUM; DYSOSTOSIS; GENETICS; HETEROZYGOTE; METABOLISM; PATHOLOGY; SIBLING; STOP CODON;

ALTERNATIVE SPLICING; CELLS, CULTURED; CHILD; CILIA; CODON, NONSENSE; EXOME; FIBROBLASTS; HETEROZYGOTE; HUMANS; INFANT; MALE; NIMA-RELATED KINASE 1; OROFACIODIGITAL SYNDROMES; SIBLINGS;

EID: 84983070609     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.103     Document Type: Article

References (49)

1. Gurrieri F, Franco B, Toriello H, Neri G: Oral-facial-digital syndromes: review and diagnostic guidelines. Am J Med Genet A 2007; 143a: 3314-3323.
2. Toriello HV, Franco B: Oral-facial-digital syndrome type I. In: Pagon RA, Adam MP, Ardinger HH et al: (eds): Gene Reviews(R). University of Washington: Seattle, WA, USA, 1993.
3. Ferrante MI, Giorgio G, Feather SA et al: Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet 2001; 68: 569-576.
4. Macca M, Franco B: The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med Genet 2009; 151c: 318-325.
5. Romio L, Fry AM, Winyard PJ, Malcolm S, Woolf AS, Feather SA: OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis. J Am Soc Nephrol 2004; 15: 2556-2568.
6. Fry AM, Leaper MJ, Bayliss R: The primary cilium: guardian of organ development and homeostasis. Organogenesis 2014; 10: 62-68.
7. Powles-Glover N: Cilia and ciliopathies: classic examples linking phenotype and genotype-an overview. Reprod Toxicol 2014; 48: 98-105.
8. Satir P, Pedersen LB, Christensen ST: The primary cilium at a glance. J Cell Sci 2010; 123: 499-503.
9. Adly N, Alhashem A, Ammari A, Alkuraya FS: Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. Hum Mutat 2014; 35: 36-40.
10. Lopez E, Thauvin-Robinet C, Reversade B et al: C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet 2014; 133: 367-377.
11. Shamseldin HE, Rajab A, Alhashem et al: Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. Am J Hum Genet 2013; 93: 555-560.
12. Thauvin-Robinet C, Lee JS, Lopez E et al: The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Nat Genet 2014; 46: 905-911.
13. Thomas S, Legendre M, Saunier S et al: TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet 2012; 91: 372-378.
14. Valente EM, Logan CV, Mougou-Zerelli S et al: Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet 2010; 42: 619-625.
15. Huber C, Cormier-Daire V: Ciliary disorder of the skeleton. Am J Med Genet C Semin Med Genet 2012; 160c: 165-174.
16. Sun Y, Ruivenkamp CA, Hoffer MJ et al: Next-generation diagnostics: gene panel, exome, or whole genome? Hum Mutat 2015; 36: 648-655.
17. Thiel C, Kessler K, Giessl et al: NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet 2011; 88: 106-114.
18. Ung PM, Schlessinger A: DFGmodel: predicting protein kinase structures in inactive states for structure-based discovery of type-II inhibitors. ACS Chem Biol 2015; 10: 269-278.
19. Surpili MJ, Delben TM, Kobarg J: Identification of proteins that interact with the central coiled-coil region of the human protein kinase NEK1. Biochemistry 2003; 42: 15369-15376.
20. White MC, Quarmby LM: The NIMA-family kinase, Nek1 affects the stability of centrosomes and ciliogenesis. BMC Cell Biol 2008; 9: 29.
21. El Hokayem J, Huber C, Couve et al: NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. J Med Genet 2012; 49: 227-233.
22. Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Bolgiani MP: Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum. Am J Med Genet 1995; 59: 359-364.
23. Silengo MC, Bell GL, Biagioli M, Franceschini P: Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. Clin Genet 1987; 31: 331-336.
24. Shalom O, Shalva N, Altschuler Y, Motro B: The mammalian Nek1 kinase is involved in primary cilium formation. FEBS Lett 2008; 582: 1465-1470.
25. Meirelles GV, Perez AM, de Souza EE et al: 'Stop Ne(c)king around': How interactomics contributes to functionally characterize Nek family kinases. World J Biol Chem 2014; 5: 141-160.
26. Fry AM, O'Regan L, Sabir SR, Bayliss R: Cell cycle regulation by the NEK family of protein kinases. J Cell Sci 2012; 125: 4423-4433.
27. Patil M, Pabla N, Huang S, Dong Z: Nek1 phosphorylates Von Hippel-Lindau tumor suppressor to promote its proteasomal degradation and ciliary destabilization. Cell Cycle 2013; 12: 166-171.
28. Zaghloul NA, Brugmann SA: The emerging face of primary cilia. Genesis 2011; 49: 231-246.
29. Veland IR, Awan A, Pedersen LB, Yoder BK, Christensen ST: Primary cilia and signaling pathways in mammalian development, health and disease. Nephron Physiol 2009; 111: 39-53.
30. Corbit KC, Shyer AE, Dowdle WE et al: Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms. Nat Cell Biol 2008; 10: 70-76.
31. Marszalek JR, Ruiz-Lozano P, Roberts E, Chien KR, Goldstein LS: Situs inversus and embryonic ciliary morphogenesis defects in mouse mutants lacking the KIF3A subunit of kinesin-II. Proc Natl Acad Sci USA 1999; 96: 5043-5048.
32. Liu B, Chen S, Johnson C, Helms JA: A ciliopathy with hydrocephalus, isolated craniosynostosis, hypertelorism, and clefting caused by deletion of Kif3a. Reprod Toxicol 2014; 48: 88-97.
33. Ferrante MI, Romio L, Castro S et al: Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene. Hum Mol Genet 2009; 18: 289-303.
34. Ferrante MI, Zullo A, Barra et al: Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet 2006; 38: 112-117.
35. Bimonte S, De Angelis A, Quagliata L et al: Ofd1 is required in limb bud patterning and endochondral bone development. Dev Biol 2011; 349: 179-191.
36. Thauvin-Robinet C, Cossee M, Cormier-Daire V et al: Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet 2006; 43: 54-61.
37. Hilton LK, White MC, Quarmby LM: The NIMA-related kinase NEK1 cycles through the nucleus. Biochem Biophys Res Commun 2009; 389: 52-56.
38. Mahjoub MR, Trapp ML, Quarmby LM: NIMA-related kinases defective in murine models of polycystic kidney diseases localize to primary cilia and centrosomes. J Am Soc Nephrol 2005; 16: 3485-3489.
39. Chaki M, Airik R, Ghosh AK et al: Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 2012; 150: 533-548.
40. Chen Y, Chen CF, Riley DJ, Chen PL.: Nek1 kinase functions in DNA damage response and checkpoint control through a pathway independent of ATM and ATR. Cell Cycle 2011; 10: 655-663.
41. Polci R, Peng A, Chen PL, Riley DJ, Chen Y: NIMA-related protein kinase 1 is involved early in the ionizing radiation-induced DNA damage response. Cancer Res 2004; 64: 8800-8803.
42. Giorgio G, Alfieri M, Prattichizzo C, Zullo A, Cairo S, Franco B: Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex. Mol Biol Cell 2007; 18: 4397-4404.
43. Slaats GG, Saldivar JC, Bacal J et al: DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome. J Clin Invest 2015; 125: 3657-3666.
44. Upadhya P, Birkenmeier EH, Birkenmeier CS, Barker JE: Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice. Proc Natl Acad Sci USA 2000; 97: 217-221.
45. Upadhya P, Churchill G, Birkenmeier EH, Barker JE, Frankel WN: Genetic modifiers of polycystic kidney disease in intersubspecific KAT2J mutants. Genomics 1999; 58: 129-137.
46. Romani M, Micalizzi A, Kraoua I et al: Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Orphanet J Rare Dis 2014; 9: 72.
47. Chen CP, Chang TY, Chen CY et al: Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene. Taiwan J Obstet Gynecol 2012; 51: 100-105.
48. Drivas TG, Wojno AP, Tucker BA, Stone EM, Bennett J: Basal exon skipping and genetic pleiotropy: a predictive model of disease pathogenesis. Sci Transl Med 2015; 7: 291ra297.
49. Littink KW, Pott JW, Collin RW et al: A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype. Invest Ophthalmol Vis Sci 2010; 51: 3646-3652.