Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

Neurogenetics

Volumn 14, Issue 3-4, 2013, Pages 215-224

  Valence, Stéphanie ^a,b   Poirier, Karine ^a,b   Lebrun, Nicolas ^a,b   Saillour, Yoann ^a,b   Sonigo, Pascale ^c   Bessières, Bettina ^c,d   Attié Bitach, Tania ^c,d   Benachi, Alexandra ^e   Masson, Cécile ^f   Encha Razavi, Ferechté ^c,d   Chelly, Jamel ^a,b   Bahi Buisson, Nadia ^a,b,d  

^a INSTITUT COCHIN   (France)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d IMAGINE INSTITUTE   (France)

^e HÔPITAL ANTOINE BÉCLÈRE   (France)

^f UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

KBP gene; Kinesin binding protein; Polymicrogyria; Prenatal diagnosis

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; FEMALE; FETUS; GENE; GENE MUTATION; HUMAN; KIF1B BINDING PROTEIN GENE; MICROGYRIA; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

BRAIN; CARRIER PROTEINS; FEMALE; FETUS; HOMOZYGOTE; HUMANS; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MUTATION; PAKISTAN;

EID: 84888038502     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-013-0373-x     Document Type: Article

References (38)

1. McBride MC, Kemper TL (1982) Pathogenesis of four-layered microgyric cortex in man. Acta Neuropathol 57(2-3):93-98
2. Kuzniecky R, Andermann F, Guerrini R (1993) Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study. Lancet 341(8845):608-612
3. Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB (2010) Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain 133(Pt 5):1415-1427
4. Barkovich AJ (2010) Current concepts of polymicrogyria. Neuroradiology 52(6):479-487. doi: 10.1007/s00234-009-0644-2
5. Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB (2012) A developmental and genetic classification for malformations of cortical development: update 2012. Brain 135(Pt 5):1348-1369. doi: 10.1093/brain/aws019
6. Levine DN, Fisher MA, Caviness VS Jr (1974) Porencephaly with microgyria: a pathologic study. Acta Neuropathol 29(2):99-113
7. Crome L, France NE (1959) Microgyria and cytomegalic inclusion disease in infancy. J Clin Pathol 12:427-434
8. Jansen A, Andermann E (2005) Genetics of the polymicrogyria syndromes. J Med Genet 42(5):369-378
9. Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG (2008) Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A 146A(13):1637-1654
10. Quelin C, Saillour Y, Poirier K, Roubertie A, Boddaert N, Desguerre I, Letourneur F, Beldjord C, Chelly J, Bahi-Buisson N (2012) Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis. Eur J Med Genet 55(10):527-530. doi: 10.1016/j.ejmg.2012. 06.004
11. Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, Valenti MP, Roeckel-Trevisiol N, Jamali S, Beclin C, Seegmuller C, Metz-Lutz MN, Lemainque A, Delepine M, Caloustian C, de Saint MA, Bruneau N, Depetris D, Mattei MG, Flori E, Robaglia-Schlupp A, Levy N, Neubauer BA, Ravid R, Marescaux C, Berkovic SF, Hirsch E, Lathrop M, Cau P, Szepetowski P (2006) SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 15(7):1195-1207
12. Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Descarie JC, Barkovich AJ, Walsh CA (2004) G protein-coupled receptor-dependent development of human frontal cortex. Science (New York NY) 303(5666):2033-2036
13. Jaglin XH, Chelly J (2009) Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects. Trends Genet 25(12):555-566. doi: 10.1016/j.tig.2009.10.003
14. Tischfield MA, Cederquist GY, Gupta ML Jr, Engle EC (2011) Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Curr Opin Genet Dev 21(3):286-294. doi: 10.1016/j.gde.2011.01.003
15. Cantagrel V, Lossi AM, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L (2007) Truncation of NHEJ1 in a patient with polymicrogyria. Hum Mutat 28(4):356-364. doi: 10.1002/humu.20450
16. Jansen AC, Oostra A, Desprechins B, De Vlaeminck Y, Verhelst H, Regal L, Verloo P, Bockaert N, Keymolen K, Seneca S, De Meirleir L, Lissens W (2011) TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology 76(11):988-992. doi: 10.1212/WNL.0b013e31821043f5
17. Poirier K, Saillour Y, Fourniol F, Francis F, Souville I, Valence S, Desguerre I, Marie Lepage J, Boddaert N, Line Jacquemont M, Beldjord C, Chelly J, Bahi-Buisson N (2012) Expanding the spectrum of TUBA1A-related cortical dysgenesis to polymicrogyria. Eur J Hum Genet. doi: 10.1038/ejhg.2012.195
18. Bilguvar K, Ozturk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoglu D, Tuysuz B, Caglayan AO, Gokben S, Kaymakcalan H, Barak T, Bakircioglu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dincer A, Johnson MH, Bronen RA, Kocer N, Per H, Mane S, Pamir MN, Yalcinkaya C, Kumandas S, Topcu M, Ozmen M, Sestan N, Lifton RP, State MW, Gunel M (2010) Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 467(7312):207-210. doi: 10.1038/nature09327
19. Kheradmand Kia S, Verbeek E, Engelen E, Schot R, Poot RA, de Coo IF, Lequin MH, Poulton CJ, Pourfarzad F, Grosveld FG, Brehm A, de Wit MC, Oegema R, Dobyns WB, Verheijen FW, Mancini GM (2012) RTTN mutations link primary cilia function to organization of the human cerebral cortex. Am J Hum Genet 91(3):533-540. doi: 10.1016/j.ajhg.2012.07.008
20. Barak T, Kwan KY, Louvi A, Demirbilek V, Saygi S, Tuysuz B, Choi M, Boyaci H, Doerschner K, Zhu Y, Kaymakcalan H, Yilmaz S, Bakircioglu M, Caglayan AO, Ozturk AK, Yasuno K, Brunken WJ, Atalar E, Yalcinkaya C, Dincer A, Bronen RA, Mane S, Ozcelik T, Lifton RP, Sestan N, Bilguvar K, Gunel M (2011) Recessive LAMC3 mutations cause malformations of occipital cortical development. Nature Genet 43(6):590-594. doi: 10.1038/ng.836
21. Hurst JA, Markiewicz M, Kumar D, Brett EM (1988) Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. J Med Genet 25(7):494-497
22. Brooks AS, Breuning MH, Osinga J, vd Smagt JJ, Catsman CE, Buys CH, Meijers C, Hofstra RM (1999) A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). J Med Genet 36(6):485-489
23. Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM (2005) Homozygous nonsense mutations in KBP are associated with malformations of the central and enteric nervous systems. Am J Human Genet 77(1):120-126. doi: 10.1086/431244
24. Murphy HR, Carver MJ, Brooks AS, Kenny SE, Ellis IH (2006) Two brothers with Goldberg-Shprintzen syndrome. Clin Dysmorphol 15(3):165-169. doi: 10.1097/01.mcd.0000204991.84861.c9
25. Bruno DL, Stark Z, Amor DJ, Burgess T, Butler K, Corrie S, Francis D, Ganesamoorthy D, Hills L, James PA, O'Rielly D, Oertel R, Savarirayan R, Prabhakara K, Salce N, Slater HR (2011) Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. Hum Mutat 32(12):1500-1506. doi: 10.1002/humu.21581
26. Drevillon L, Megarbane A, Demeer B, Matar C, Benit P, Briand-Suleau A, Bodereau V, Ghoumid J, Nasser M, Decrouy X, Doco-Fenzy M, Rustin P, Gaillard D, Goossens M, Giurgea I (2013) KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. Hum Mol Genet. doi: 10.1093/hmg/ddt083
27. Goldberg RB, Shprintzen RJ (1981) Hirschsprung megacolon and cleft palate in two sibs. J Craniofac Genet Dev Biol 1(2):185-189
28. Gillis DA, Grantmyre EB (1965) The meconium-plug syndrome and Hirschsprung's disease. Can Med Assoc J 92:225-227
29. Keckler SJ, St Peter SD, Spilde TL, Tsao K, Ostlie DJ, Holcomb GW 3rd, Snyder CL (2008) Current significance of meconium plug syndrome. J Pediatr Surg 43(5):896-898. doi: 10.1016/j.jpedsurg.2007.12.035
30. Attie T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, Boutrand L, Beldjord C, Nihoul-Fekete C, Munnich A et al (1995) Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet 4(8):1381-1386
31. Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R (2008) Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet 45(1):1-14. doi: 10.1136/jmg.2007.053959
32. Blatch GL, Lassle M (1999) The tetratricopeptide repeat: a structural motif mediating protein-protein interactions. Bioessays News Rev Mol Cell Dev Biol 21(11):932-939. doi: 10.1002/(SICI)1521-1878(199911)21:11<932::AID- BIES5>3.0.CO;2-N
33. Wozniak MJ, Melzer M, Dorner C, Haring HU, Lammers R (2005) The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein. BMC Cell Biol 6:35. doi: 10.1186/1471-2121-6-35
34. Alves MM, Burzynski G, Delalande JM, Osinga J, van der Goot A, Dolga AM, de Graaff E, Brooks AS, Metzger M, Eisel UL, Shepherd I, Eggen BJ, Hofstra RM (2010) KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation. Hum Mol Genet 19(18):3642-3651. doi: 10.1093/hmg/ddq280
35. Hirokawa N, Niwa S, Tanaka Y (2010) Molecular motors in neurons: transport mechanisms and roles in brain function, development, and disease. Neuron 68(4):610-638. doi: 10.1016/j.neuron.2010.09.039
36. Yonekawa Y, Harada A, Okada Y, Funakoshi T, Kanai Y, Takei Y, Terada S, Noda T, Hirokawa N (1998) Defect in synaptic vesicle precursor transport and neuronal cell death in KIF1A motor protein-deficient mice. J Cell Biol 141(2):431-441
37. Lyons DA, Naylor SG, Mercurio S, Dominguez C, Talbot WS (2008) KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome. Development 135(3):599-608. doi: 10.1242/dev.012377
38. Jaglin XH, Poirier K, Saillour Y, Buhler E, Tian G, Bahi-Buisson N et al (2009) Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet 41(6):746-752