Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy

Neurogenetics

Volumn 11, Issue 3, 2010, Pages 319-325

  Kolb, Luis E ^a   Arlier, Zulfikar ^a   Yalcinkaya, Cengiz ^b   Ozturk, Ali K ^a   Moliterno, Jennifer A ^a   Erturk, Ozdem ^b   Bayrakli, Fatih ^a   Korkmaz, Baris ^b   DiLuna, Michael L ^a   Yasuno, Katsuhito ^a   Bilguvar, Kaya ^a   Ozcelik, Tayfun ^c   Tuysuz, Beyhan ^b   State, Matthew W ^a,d   Gunel, Murat ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b ISTANBUL UNIVERSITY   (Turkey)

^c BILKENT UNIVERSITY   (Turkey)

^d YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cerebellar hypoplasia; Disequilibrium syndrome; Pachygyria; VLDLR

Indexed keywords

VERY LOW DENSITY LIPOPROTEIN RECEPTOR; LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; ATAXIA; CASE REPORT; CHILD; CONSANGUINEOUS MARRIAGE; CONTINGENT NEGATIVE VARIATION; FEMALE; GENE DELETION; GENE MAPPING; HOMOZYGOSITY; HUMAN; MALE; OLIVOPONTOCEREBELLAR ATROPHY; PACHYGYRIA; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TURKEY (REPUBLIC); ATAXIC GAIT; CEREBELLAR ATAXIA; CONSANGUINITY; GENETICS; HOMOZYGOTE; LISSENCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIVOPONTOCEREBELLAR ATROPHIES; SIBLING; TURKEY;

CEREBELLAR ATAXIA; CHILD; CONSANGUINITY; GAIT ATAXIA; HOMOZYGOTE; HUMANS; LISSENCEPHALY; MAGNETIC RESONANCE IMAGING; MALE; OLIVOPONTOCEREBELLAR ATROPHIES; RECEPTORS, LDL; SEQUENCE DELETION; SIBLINGS; TURKEY;

EID: 77954660949     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-009-0232-y     Document Type: Article

References (42)

1. Esscher E, Flodmark O, Hagberg G, Hagberg B (1996) Nonprogressive ataxia: origins, brain pathology and impairments in 78 swedish children. Dev Med Child Neurol 38:285-296
2. Sanner G, Hagberg B (1974) 188 cases of non-progressive ataxic syndromes in childhood. Aspects of aetiology and classification. Neuropadiatrie 5:224-235
3. Steinlin M (1998) Non-progressive congenital ataxias. Brain Dev 20:199-208
4. Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA (2000) Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 26:93-96
5. Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS (2004) Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet 36:1301-1305
6. Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R (2007) Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet 39:882-888
7. Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie- Bitach T (2007) The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet 80:186-194
8. Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro CD, Signorini S, Stringini GR, Verloes A, Zabloka D, Dallapiccola B, Gleeson JG, Valente EM, International JSRD Study Group (2009) MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat 30:E432-E442
9. Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L, International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM (2008) RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet 74:164-170
10. Castori M, Valente EM, Donati MA, Salvi S, Fazzi E, Procopio E, Galluccio T, Emma F, Dallapiccola B, Bertini E, Italian MTS Study Group (2005) NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet 42:e9
11. Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S (2007) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet 39:875-881
12. Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG (2004) Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet 75:979-987
13. Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA (2004) Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet 36:1008-1013
14. Joubert M, Eisenring JJ, Robb JP, Andermann F (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 19:813-825
15. Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA (2004) The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet 75:82-91
16. Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al- Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E, International Joubert Syndrome Related Disorders Study Group, Bertini E, Dallapiccola B, Gleeson JG (2006) Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet 38:623-625
17. Wolf MT, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F (2007) Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. Kidney Int 72:1520-1526 (Pubitemid 350197958)
18. Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U (2008) Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. Proc Natl Acad Sci U S A 105:4232-4236
19. Türkmen S, Hoffmann K, Demirhan O, Aruoba D, Humphrey N, Mundlos S (2008) Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. Eur J Hum Genet 16:1070-1074
20. Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW (2008) Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Eur J Hum Genet 16:270-273
21. Boycott KM, Flavelle S, Bureau A, Glass HC, Fujiwara TM, Wirrell E, Davey K, Chudley AE, Scott JN, McLeod DR, Parboosingh JS (2005) Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 77:477-483
22. Pallister PD, Opitz JM (1985) Disequilibrium syndrome in Montana Hutterites. Am J Med Genet 22:567-569
23. Schurig V, Orman AV, Bowen P (1981) Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites. Am J Med Genet 9:43-53
24. Hagberg B, Sanner G, Steen M (1972) The dysequilibrium syndrome in cerebral palsy. Clinical aspects and treatment. Acta Paediatr Scand Suppl 226:1-63
25. Bayrakli F, Bilguvar K, Mason CE, DiLuna ML, Bayri Y, Gungor L, Terzi M, Mane SM, Lifton RP, State MW, Gunel M (2007) Rapid identification of disease-causing mutations using copy number analysis within linkage intervals. Hum Mutat 28:1236-1240
26. Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M (2007) PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17:1665-1674
27. Rozen S, Skaletsky H (2000) Primer3 on theWWWfor general users and for biologist programmers. Methods Mol Biol 132:365-386
28. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215:403-410
29. Sakai J, Hoshino A, Takahashi S, Miura Y, Ishii H, Suzuki H, Kawarabayasi Y, Yamamoto T (1994) Structure, chromosome location, and expression of the human very low density lipoprotein receptor gene. J Biol Chem 269:2173-2182
30. Tacken PJ, Hofker MH, Havekes LM, van Dijk KW (2001) Living up to a name: the role of the VLDL receptor in lipid metabolism. Curr Opin Lipidol 12:275-279
31. Hiesberger T, Trommsdorff M, Howell BW, Goffinet A, Mumby MC, Cooper JA, Herz J (1999) Direct binding of Reelin to VLDL receptor and ApoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation. Neuron 24:481-489
32. Miyata T, Nakajima K, Mikoshiba K, Ogawa M (1997) Regulation of Purkinje cell alignment by reelin as revealed with CR-50 antibody. J Neurosci 17:3599-3609
33. D'Arcangelo G, Miao GG, Chen SC, Soares HD, Morgan JI, Curran T (1995) A protein related to extracellular matrix proteins deleted in the mouse mutant reeler. Nature 374:719-723
34. Trommsdorff M et al (1999) Reeler/disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2. Cell 97:689-701
35. Frykman PK, Brown MS, Yamamoto T, Goldstein JL, Herz J (1995) Normal plasma lipoproteins and fertility in gene-targeted mice homozygous for a disruption in the gene encoding very low density lipoprotein receptor. Proc Natl Acad Sci U S A 92:8453-8457
36. Boycott KM, Bonnemann C, Herz J, Neuert S, Beaulieu C, Scott JN, Venkatasubramanian A, Parboosingh JS (2009) Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J Child Neurol 24:1310-1315
37. Tan U (2006) A new syndrome with quadrupedal gait, primitive speech, and severe mental retardation as a live model for human evolution. Int J Neurosci 116:361-369
38. Türkmen S, Demirhan O, Hoffmann K, Diers A, Zimmer C, Sperling K, Mundlos S (2006) Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p. J Med Genet 43(5):461-464. Epub 2005 Dec 21
39. Türkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung C, Kuss A, Humphrey N, Mundlos S, Robinson PN (2009) CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet 5:e1000487
40. Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U (2008) Reply to Herz et al. and Humphrey et al.: genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion. Proc Natl Acad Sci U S A 105:E32-E33
41. Herz J, Boycott KM, Parboosingh JS (2008) "Devolution" of bipedality. Proc Natl Acad Sci U S A 105:E25
42. Humphrey N, Mundlos S, Turkmen S (2008) Genes and quadrupedal locomotion in humans. Proc Natl Acad Sci U S A 105:E26