Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation

American Journal of Human Genetics

Volumn 91, Issue 2, 2012, Pages 337-342

  Sarig, Ofer ^a   Nahum, Sagi ^b   Rapaport, Debora ^c   Ishida Yamamoto, Akemi ^d   Fuchs Telem, Dana ^a,c   Qiaoli, Li ^e   Cohen Katsenelson, Ksenya ^b   Spiegel, Ronen ^b,f   Nousbeck, Janna ^a   Israeli, Shirli ^a,c   Borochowitz, Zvi Uri ^b,g   Padalon Brauch, Gilly ^a   Uitto, Jouni ^e   Horowitz, Mia ^c   Shalev, Stavit ^b,f   Sprecher, Eli ^a,c  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d ASAHIKAWA MEDICAL COLLEGE   (Japan)

^e THOMAS JEFFERSON UNIVERSITY   (United States)

^f HAEMEK MEDICAL CENTER   (Israel)

^g BNAI ZION MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CENTRIOLAR PROTEIN HOMOLOG 1A; LEUCINE; PROLINE; PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL MEMBRANE; CELL STRUCTURE; CELL VACUOLE; CENTROSOME; CHILD; CHROMOSOME 3P; CLINICAL ARTICLE; CYTOSOL; EXOME; FACE DYSMORPHIA; GENE MAPPING; GOLGI COMPLEX; HOMOZYGOSITY; HUMAN; HYPOTRICHOSIS; MALE; NAIL DYSTROPHY; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; EXOME; FEMALE; GOLGI APPARATUS; HUMANS; HYPOTRICHOSIS; INDOLES; MALE; MICROSCOPY, CONFOCAL; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEIN TRANSPORT; PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 84864952694     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.06.003     Document Type: Article

References (25)

1. J.F. Bateman, R.P. Boot-Handford, and S.R. Lamandé Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations Nat. Rev. Genet. 10 2009 173 183
2. J. Hellemans, O. Preobrazhenska, A. Willaert, P. Debeer, P.C. Verdonk, T. Costa, K. Janssens, B. Menten, N. Van Roy, and S.J. Vermeulen Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis Nat. Genet. 36 2004 1213 1218
3. F. Malfait, R.J. Wenstrup, and A. De Paepe Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type Genet. Med. 12 2010 597 605
4. D.M. Milewicz, Z. Urbán, and C. Boyd Genetic disorders of the elastic fiber system Matrix Biol. 19 2000 471 480
5. M. Mohamed, D. Kouwenberg, T. Gardeitchik, U. Kornak, R.A. Wevers, and E. Morava Metabolic cutis laxa syndromes J. Inherit. Metab. Dis. 34 2011 907 916
6. L. Basel-Vanagaite, O. Sarig, D. Hershkovitz, D. Fuchs-Telem, D. Rapaport, A. Gat, G. Isman, I. Shirazi, M. Shohat, and C.D. Enk RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome Am. J. Hum. Genet. 85 2009 254 263
7. S. Uppal, C.P. Diggle, I.M. Carr, C.W. Fishwick, M. Ahmed, G.H. Ibrahim, P.S. Helliwell, A. Latos-Bieleńska, S.E. Phillips, and A.F. Markham Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy Nat. Genet. 40 2008 789 793
8. M. Ridanpää, H. van Eenennaam, K. Pelin, R. Chadwick, C. Johnson, B. Yuan, W. vanVenrooij, G. Pruijn, R. Salmela, and S. Rockas Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia Cell 104 2001 195 203
9. P. Momeni, G. Glöckner, O. Schmidt, D. von Holtum, B. Albrecht, G. Gillessen-Kaesbach, R. Hennekam, P. Meinecke, B. Zabel, and A. Rosenthal Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I Nat. Genet. 24 2000 71 74
10. J.A. Price, D.W. Bowden, J.T. Wright, M.J. Pettenati, and T.C. Hart Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome Hum. Mol. Genet. 7 1998 563 569
11. P.H. Itin, and S.K. Fistarol Ectodermal dysplasias Am. J. Med. Genet. C. Semin. Med. Genet. 131C 2004 45 51
12. S. Shalev-Alon Sr., and Z.-U. Borochowitz A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families Eur. J. Hum. Genet. 55 2012 256 264
13. M. Schuelke An economic method for the fluorescent labeling of PCR fragments Nat. Biotechnol. 18 2000 233 234
14. M. Fishelson, and D. Geiger Exact genetic linkage computations for general pedigrees Bioinformatics 18 Suppl 1 2002 S189 S198
15. R.S. Hames, R. Hames, S.L. Prosser, U. Euteneuer, C.A. Lopes, W. Moore, H.R. Woodland, and A.M. Fry Pix1 and Pix2 are novel WD40 microtubule-associated proteins that colocalize with mitochondria in Xenopus germ plasm and centrosomes in human cells Exp. Cell Res. 314 2008 574 589
16. C. Fourrage, S. Chevalier, and E. Houliston A highly conserved Poc1 protein characterized in embryos of the hydrozoan Clytia hemisphaerica: Localization and functional studies PLoS ONE 5 2010 e13994
17. C.G. Pearson, D.P. Osborn, T.H. Giddings Jr., P.L. Beales, and M. Winey Basal body stability and ciliogenesis requires the conserved component Poc1 J. Cell Biol. 187 2009 905 920
18. T. Vinogradova, R. Paul, A.D. Grimaldi, J. Loncarek, P.M. Miller, D. Yampolsky, V. Magidson, A. Khodjakov, A. Mogilner, and I. Kaverina Concerted effort of centrosomal and Golgi-derived microtubules is required for proper Golgi complex assembly but not for maintenance Mol. Biol. Cell 23 2012 820 833
19. U. Kornak, E. Reynders, A. Dimopoulou, J. van Reeuwijk, B. Fischer, A. Rajab, B. Budde, P. Nürnberg, F. Foulquier, D. Lefeber ARCL Debré-type Study Group Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+ATPase subunit ATP6V0A2 Nat. Genet. 40 2008 32 34
20. H.C. Hennies, U. Kornak, H. Zhang, J. Egerer, X. Zhang, W. Seifert, J. Kühnisch, B. Budde, M. Nätebus, and F. Brancati Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin Nat. Genet. 40 2008 1410 1412
21. M. Kirkham, A. Fujita, R. Chadda, S.J. Nixon, T.V. Kurzchalia, D.K. Sharma, R.E. Pagano, J.F. Hancock, S. Mayor, and R.G. Parton Ultrastructural identification of uncoated caveolin-independent early endocytic vehicles J. Cell Biol. 168 2005 465 476
22. D.J. Chinnapen, H. Chinnapen, D. Saslowsky, and W.I. Lencer Rafting with cholera toxin: Endocytosis and trafficking from plasma membrane to ER FEMS Microbiol. Lett. 266 2007 129 137
23. V. Hucthagowder, E. Morava, U. Kornak, D.J. Lefeber, B. Fischer, A. Dimopoulou, A. Aldinger, J. Choi, E.C. Davis, and D.N. Abuelo Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival Hum. Mol. Genet. 18 2009 2149 2165
24. D. Syx, F. Malfait, L. Van Laer, J. Hellemans, T. Hermanns-Lê, A. Willaert, A. Benmansour, A. De Paepe, and A. Verloes The RIN2 syndrome: A new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2) Hum. Genet. 128 2010 79 88
25. E. Morava, M. Guillard, D.J. Lefeber, and R.A. Wevers Autosomal recessive cutis laxa syndrome revisited Eur. J. Hum. Genet. 17 2009 1099 1110