Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene

American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages 42-47

  Faletra, Flavio ^a   D'Adamo, Adamo P ^b   Bruno, Irene ^a   Athanasakis, Emmanouil ^a   Biskup, Saskia ^c   Esposito, Laura ^d   Gasparini, Paolo ^a,b  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b UNIVERSITY OF TRIESTE   (Italy)

^c CEGAT GMBH   (Germany)

^d CBM scrl Area Science Park Basovizza   (Italy)

Author keywords

Autosomal recessive; C.1176_1198del; COL9A3; Homozygous mutation; Stickler syndrome

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; COL9A3 GENE; FEMALE; GENE; GENETIC ASSOCIATION; HUMAN; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; STICKLER SYNDROME; BONE; COLLAGEN DISEASES; CONGENITAL MALFORMATION; FACIES; GENETICS; HEARING IMPAIRMENT; HOMOZYGOTE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; RADIOGRAPHY; RECESSIVE GENE;

COL9A3 PROTEIN, HUMAN; COLLAGEN TYPE 9;

ADOLESCENT; BONE AND BONES; CHILD; CHILD, PRESCHOOL; COLLAGEN DISEASES; COLLAGEN TYPE IX; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; GENES, RECESSIVE; HEARING LOSS; HOMOZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE;

EID: 84890792872     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36165     Document Type: Article

References (25)

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. 2010. A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.
2. Asamura K, Abe S, Fukuoka H, Nakamura Y, Usami S. 2005. Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients. Auris Nasus Larynx 32:113-117.
3. Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, Ala-Kokko L. 2011. A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. Am J Med Genet A 155A:1668-1672.
4. Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perälä M, arter L, Spector TD, Kolodziej L, Seppänen U, Glazar R, Królewski J, Latos-Bielenska A, Ala-Kokko L. 2001. A mutation in COL9A1 causes multiple epiphyseal dysplasia: Further evidence for locus heterogeneity. Am J Hum Genet 69:969-980.
5. Goldstein O, Guyon R, Kukekova A, Kuznetsova TN, Pearce-Kelling SE, Johnson J, Aguirre GD, Acland GM. 2010. COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. Mamm Genome 21:398-408.
6. Gurnett CA, Veile R, Zempel J, Blackburn L, Lovett M, Bowcock A. 2008. Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation. Arch Neurol 65:550-553.
7. Hagg R, Hedbom E, Möllers U, Aszódi A, Fässler R, Bruckner P. 1997. Absence of the alpha1(IX) chain leads to a functional knock-out of the entire collagen IX protein in mice. J Biol Chem 272:20650-20654.
8. Jackson GC, Marcus-Soekarman D, Stolte-Dijkstra I, Verrips A, Taylor JA, Briggs MD. 2010. Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. Am J Med Genet A 152A:863-869.
9. Jacobs S, Ruusuvuori E, Sipilä ST, Haapanen A, Damkier HH, Kurth I, Hentschke M, Schweizer M, Rudhard Y, Laatikainen LM, Tyynelä J, Praetorius J, Voipio J, Hübner CA. 2008. Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability. Proc Natl Acad Sci USA 105:311-316.
10. Lin CH, Tapscott SJ, Olson JM. 2006. Congenital hypothyroidism (cretinism) in neuroD2-deficient mice. Mol Cell Biol 26:4311-4315.
11. Lohiniva J, Paassilta P, Seppänen U, Vierimaa O, Kivirikko S, Ala-Kokko L. 2000. Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia. Am J Med Genet 90:216-222.
12. Mayne R, Brewton RG, Mayne PM, Baker JR. 1993. Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous. J Biol Chem 268:9381-9386.
13. Muragaki Y, Mariman EC, van Beersum SE, Perälä M, van Mourik JB, Warman ML, Olsen BR, Hamel BC. 1996. A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagenIX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). Nat Genet 12:103-105.
14. Myllyharju J, Kivirikko KI. 2001. Collagens and collagen-related diseases. Ann Med 33:7-21.
15. Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI. 2011. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. Invest Ophthalmol Vis Sci 52:4774-4779.
16. Paassilta P, Lohiniva J, Göring HH, Perälä M, Räinä SS, Karppinen J, Hakala M, Palm T, Kröger H, Kaitila I, Vanharanta H, Ott J, Ala-Kokko L. 2001. Identification of a novel common genetic risk factor for lumbar disk disease. JAMA 285:1843-1849.
17. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. 2007. PLINK: A toolset for whole-genome association and population-based linkage analysis. Am J Hum Genet 81:559-575.
18. Reissner C, Klose M, Fairless R, Missler M. 2008. Mutational analysis of the neurexin/neuroligin complex reveals essential and regulatory components. Proc Natl Acad Sci USA 105:15124-15129.
19. Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. 2010. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7:575-576.
20. Stickler GB, Belau PG, Farrell FJ, Jones JD, Jugh DG, Steinberg AG, Ward LE. 1965. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 40:433-455.
21. Sugimoto Y, Furuno T, Nakanishi M. 2009. Effect of NeuroD2 expression on neuronal differentiation in mouse embryonic stem cells. Cell Biol Int 33:174-179.
22. Traylor RN, Bruno DL, Burgess T, Wildin R, Spencer A, Ganesamoorthy D, Amor DJ, Hunter M, Caplan M, Rosenfeld JA, Theisen A, Torchia BS, Shaffer LG, Ballif BC, Slater HR. 2010. A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13. PLoS ONE 5: e12462.
23. Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, Van de Heyning P, Usami S. 2006. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am J Hum Genet 79:449-457.
24. Ylisaukko-oja T, Rehnström K, Auranen M, Vanhala R, Alen R, Kempas E, Ellonen P, Turunen JA, Makkonen I, Riikonen R, Nieminen-von Wendt T, von Wendt L, Peltonen L, Järvelä I. 2005. Analysis of four neuroligin genes as candidates for autism. Eur J Hum Genet 13:1285-1292.
25. Zlotogora J, Sagi M, Shuper A, Leiba H, Merin S. 1992. Variability of Stickler syndrome. Am J Med Genet 42:337-339.