Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase

American Journal of Human Genetics

Volumn 92, Issue 5, 2013, Pages 781-791

  Campeau, Philippe M ^a   Lenk, Guy M ^b   Lu, James T ^a   Bae, Yangjin ^a   Burrage, Lindsay ^a   Turnpenny, Peter ^c   Román Corona Rivera, Jorge ^d,e   Morandi, Lucia ^f   Mora, Marina ^f   Reutter, Heiko ^g   Vulto Van Silfhout, Anneke T ^h   Faivre, Laurence ^i,j   Haan, Eric ^k   Gibbs, Richard A ^a   Meisler, Miriam H ^b   Lee, Brendan H ^a,l  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^d Dr Juan I Menchaca Civil Hospital of Guadalajara   (Mexico)

^e UNIVERSITY OF GUADALAJARA   (Mexico)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

^g UNIVERSITY OF BONN   (Germany)

^h RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ Medical University of Dijon   (France)

^j UNIVERSITÉ DE BOURGOGNE   (France)

^k UNIVERSITY OF ADELAIDE   (Australia)

^l HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATASE; PHOSPHOINOSITIDE PHOSPHATASE; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOPHAGY; AUTOSOMAL RECESSIVE DISORDER; BONE DEVELOPMENT; BONE MALFORMATION; CELL VACUOLE; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORTICAL BONE; ENDOSOME; FEMALE; FIBROBLAST; FIG4 GENE; FRAMESHIFT MUTATION; GENE; GENE ACTIVITY; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; INFANT; MALE; MICRO-COMPUTED TOMOGRAPHY; MISSENSE MUTATION; MOUSE; NERVE CELL; NERVE DEGENERATION; NEUROLOGIC DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; NULL ALLELE; OSTEOBLAST; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE; PHENOTYPIC VARIATION; PHOSPHOINOSITIDE METABOLISM; PRESCHOOL CHILD; PRIORITY JOURNAL; THREE DIMENSIONAL IMAGING; TRABECULAR BONE; YUNIS VARON SYNDROME;

ANIMALS; BASE SEQUENCE; BONE DEVELOPMENT; CLEIDOCRANIAL DYSPLASIA; ECTODERMAL DYSPLASIA; EXOME; FIBROBLASTS; FLAVOPROTEINS; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MICE; MICROGNATHISM; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHOSPHATIDYLINOSITOL PHOSPHATES; SEQUENCE ANALYSIS, DNA;

MUS;

EID: 84877577668     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.03.020     Document Type: Article

References (49)

1. E. Yunis, and H. Varón Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome Am. J. Dis. Child. 134 1980 649 653
2. H.E. Hughes, and M.W. Partington Brief clinical report: the syndrome of Yunis and Varón - report of a further case Am. J. Med. Genet. 14 1983 539 544
3. R.A. Pfeiffer, L. Diekmann, and H.J. Stock Aplasia of the thumbs and great toes as the outstanding feature of Yunis and Varon syndrome. A new entity. A new observation Ann. Genet. 31 1988 241 243
4. R.C. Hennekam, and C. Vermeulen-Meiners Further delineation of the Yunis-Varon syndrome J. Med. Genet. 26 1989 55 58
5. C. Garrett, A.C. Berry, R.H. Simpson, and C.M. Hall Yunis-Varon syndrome with severe osteodysplasty J. Med. Genet. 27 1990 114 121
6. G.L. Lapeer, and S.L. Fransman Hypodontia, impacted permanent teeth, spinal defects, and cardiomegaly in a previously diagnosed case of the Yunis-Varon syndrome Oral Surg. Oral Med. Oral Pathol. 73 1992 456 460
7. L.C. Adès, L.L. Morris, M. Richardson, C. Pearson, and E.A. Haan Congenital heart malformation in Yunis-Varón syndrome J. Med. Genet. 30 1993 788 792
8. F. Dworzak, M. Mora, C. Borroni, F. Cornelio, F. Blasevich, A. Cappellini, F. Tagliavini, and B. Bertagnolio Generalized lysosomal storage in Yunis Varón syndrome Neuromuscul. Disord. 5 1995 423 428
9. H. Rabe, T. Brune, R. Rossi, V. Steinhorst, G. Jorch, J. Horst, and B. Wittwer Yunis-Varon syndrome: the first case of German origin Clin. Dysmorphol. 5 1996 217 222
10. C.E. Oyer, N.G. Tatevosyants, S.C. Cortez, A. Hornstein, and M. Wallach Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: case report and literature review Pediatr. Dev. Pathol. 1 1998 314 318
11. J. Christie, S. Sacks, D. Decorato, and N.V. Bergasa Atrophy of the left lobe of the liver and anomalous hepatic vessel in a patient with Yunis-Varon syndrome J. Clin. Gastroenterol. 29 1999 210 211
12. E. Walch, M. Schmidt, R.E. Brenner, D. Emons, C. Dame, B. Pontz, O.D. Wiestler, and P. Bartmann Yunis-Varon syndrome: evidence for a lysosomal storage disease Am. J. Med. Genet. 95 2000 157 160
13. T. Nagai [Yunis-Varon syndrome] Ryoikibetsu Shokogun Shirizu 34 Part 2 2001 839 840
14. M. Sumi, T. Kusumoto, T. Kondoh, H. Moriuchi, M. Miyamoto, H. Masuzaki, and T. Ishimaru A case of Yunis-Varon syndrome complicated with complete cleft lip and palate Am. J. Med. Genet. A. 125A 2004 92 93
15. S. Bhatia, and R.G. Holla Yunis-Varon syndrome Indian Pediatr. 42 2005 373 375
16. M.L. Kulkarni, H.N. Vani, K. Nagendra, T.K. Mahesh, A. Kumar, S. Haneef, Z. Mohammed, and P.M. Kulkarni Yunis Varon syndrome Indian J. Pediatr. 73 2006 353 355
17. L. Basel-Vanagaite, L. Kornreich, O. Schiller, J. Yacobovich, and P. Merlob Yunis-Varon syndrome: further delineation of the phenotype Am. J. Med. Genet. A. 146A 2008 532 537
18. J.R. Corona-Rivera, C.O. Romo-Huerta, E. López-Marure, F.J. Ramos, S.A. Estrada-Padilla, and L.C. Zepeda-Romero New ocular findings in two sisters with Yunis-Varón syndrome and literature review Eur. J. Med. Genet. 54 2011 76 81
19. R. Elizondo-Dueñaz, G. Rivera-Silva, H. Marcos Abdala, M. López-Altamirano, and H.R. Martínez-Menchaca [Yunis-Varon syndrome: a case report] Gac. Med. Mex. 148 2012 81 82
20. H. Reutter, S. Bagci, A. Müller, U. Gembruch, A. Geipel, C. Berg, T. Eggermann, S. Spengler, P. Bartmann, and S. Rudnik-Schöneborn Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: another case of Yunis-Varón syndrome or report of a new entity Eur. J. Med. Genet. 55 2012 27 31
21. M.W. Partington Cardiomyopathy added to the Yunis-Varon syndrome Proc. Greenwood Genetic Center 7 1988 224 225
22. B. Lee, K. Thirunavukkarasu, L. Zhou, L. Pastore, A. Baldini, J. Hecht, V. Geoffroy, P. Ducy, and G. Karsenty Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia Nat. Genet. 16 1997 307 310
23. P.M. Campeau, J.C. Kim, J.T. Lu, J.A. Schwartzentruber, O.A. Abdul-Rahman, S. Schlaubitz, D.M. Murdock, M.M. Jiang, E.J. Lammer, and G.M. Enns Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome Am. J. Hum. Genet. 90 2012 282 289
24. P.M. Campeau, J.T. Lu, G. Sule, M.M. Jiang, Y. Bae, S. Madan, W. Högler, N.J. Shaw, S. Mumm, and R.A. Gibbs Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis Hum. Mol. Genet. 21 2012 4904 4909
25. C.Y. Chow, Y. Zhang, J.J. Dowling, N. Jin, M. Adamska, K. Shiga, K. Szigeti, M.E. Shy, J. Li, and X. Zhang Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J Nature 448 2007 68 72
26. 2 phosphatase FIG4 Brain 134 2011 1959 1971
27. A. Manford, T. Xia, A.K. Saxena, C. Stefan, F. Hu, S.D. Emr, and Y. Mao Crystal structure of the yeast Sac1: implications for its phosphoinositide phosphatase function EMBO J. 29 2010 1489 1498
28. G.M. Lenk, C.J. Ferguson, C.Y. Chow, N. Jin, J.M. Jones, A.E. Grant, S.N. Zolov, J.J. Winters, R.J. Giger, and J.J. Dowling Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J PLoS Genet. 7 2011 e1002104
29. N. Jin, C.Y. Chow, L. Liu, S.N. Zolov, R. Bronson, M. Davisson, J.L. Petersen, Y. Zhang, S. Park, and J.E. Duex VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse EMBO J. 27 2008 3221 3234
30. R.J. Botelho, J.A. Efe, D. Teis, and S.D. Emr Assembly of a Fab1 phosphoinositide kinase signaling complex requires the Fig4 phosphoinositide phosphatase Mol. Biol. Cell 19 2008 4273 4286
31. T. Proikas-Cezanne, S. Ruckerbauer, Y.D. Stierhof, C. Berg, and A. Nordheim Human WIPI-1 puncta-formation: a novel assay to assess mammalian autophagy FEBS Lett. 581 2007 3396 3404
32. C.J. Ferguson, G.M. Lenk, and M.H. Meisler Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2 Hum. Mol. Genet. 18 2009 4868 4878
33. L.S. Weisman Yeast vacuole inheritance and dynamics Annu. Rev. Genet. 37 2003 435 460
34. C.J. Ferguson, G.M. Lenk, J.M. Jones, A.E. Grant, J.J. Winters, J.J. Dowling, R.J. Giger, and M.H. Meisler Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration Hum. Mol. Genet. 21 2012 3525 3534
35. S.M. Sunkin, L. Ng, C. Lau, T. Dolbeare, T.L. Gilbert, C.L. Thompson, M. Hawrylycz, and C. Dang Allen Brain Atlas: an integrated spatio-temporal portal for exploring the central nervous system Nucleic Acids Res. 41 Database issue 2013 D996 D1008
36. C.J. Ferguson, G.M. Lenk, and M.H. Meisler PtdIns(3,5)P2 and autophagy in mouse models of neurodegeneration Autophagy 6 2010 170 171
37. J.J. Winters, C.J. Ferguson, G.M. Lenk, V.I. Giger-Mateeva, P. Shrager, M.H. Meisler, and R.J. Giger Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4 J. Neurosci. 31 2011 17736 17751
38. O.C. Ikonomov, D. Sbrissa, J. Fligger, K. Delvecchio, and A. Shisheva ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder J. Biol. Chem. 285 2010 26760 26764
39. C.Y. Chow, J.E. Landers, S.K. Bergren, P.C. Sapp, A.E. Grant, J.M. Jones, L. Everett, G.M. Lenk, D.M. McKenna-Yasek, and L.S. Weisman Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS Am. J. Hum. Genet. 84 2009 85 88
40. C.P. Tsai, B.W. Soong, K.P. Lin, P.H. Tu, J.L. Lin, and Y.C. Lee FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS Neurobiol. Aging 32 2011 553 e13-e21
41. S. Verdiani, P. Origone, A. Geroldi, M. Bandettini Di Poggio, V. Mantero, E. Bellone, G. Mancardi, C. Caponnetto, and P. Mandich The FIG4 gene does not play a major role in causing ALS in Italian patients Amyotroph Lateral Scler Frontotemporal Degener 14 2013 228 229
42. J. Tao, S. Chen, T. Yang, B. Dawson, E. Munivez, T. Bertin, and B. Lee Osteosclerosis owing to Notch gain of function is solely Rbpj-dependent J. Bone Miner. Res. 25 2010 2175 2183
43. B. Abo-Dalo, H.-G. Kim, M. Roes, M. Stefanova, A. Higgins, Y. Shen, S. Mundlos, B.J. Quade, J.F. Gusella, and K. Kutsche Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome Am. J. Med. Genet. A. 143A 2007 2668 2674
44. A.S. Nicot, and J. Laporte Endosomal phosphoinositides and human diseases Traffic 9 2008 1240 1249
45. P.J. Wen, S.L. Osborne, and F.A. Meunier Dynamic control of neuroexocytosis by phosphoinositides in health and disease Prog. Lipid Res. 50 2011 52 61
46. K. Hnia, I. Vaccari, A. Bolino, and J. Laporte Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology Trends Mol. Med. 18 2012 317 327
47. J.E. Below, D.L. Earl, K.M. Shively, M.J. McMillin, J.D. Smith, E.H. Turner, M.J. Stephan, L.I. Al-Gazali, J.L. Hertecant, D. Chitayat University of Washington Center for Mendelian Genomics Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia Am. J. Hum. Genet. 92 2013 137 143
48. C. Huber, E.A. Faqeih, D. Bartholdi, C. Bole-Feysot, Z. Borochowitz, D.P. Cavalcanti, A. Frigo, P. Nitschke, J. Roume, and H.G. Santos Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia Am. J. Hum. Genet. 92 2013 144 149
49. L.F. Huang, N. Fukai, P.B. Selby, B.R. Olsen, and S. Mundlos Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice Dev. Dyn. 210 1997 33 40