Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Khan, Tahir N ^a   Klar, Joakim ^b   Nawaz, Sadia ^a   Jameel, Muhammad ^a   Tariq, Muhammad ^a   Malik, Naveed A ^a   Baig, Shahid M ^a   Dahl, Niklas ^b  

^a NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^b UPPSALA UNIVERSITY   (Sweden)

Author keywords

Anonychia; Hyponychia; Mutation; Polymorphism; RSPO4 gene

Indexed keywords

PROTEIN; R SPONDIN 4; UNCLASSIFIED DRUG;

ANONYCHIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 20P; CODING; CODON; CONGENITAL HYPONYCHIA; FAMILY; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPOPLASIA; INTRON; MICROSATELLITE MARKER; MISSENSE MUTATION; PAKISTAN;

CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 20; CODON, INITIATOR; CONSANGUINITY; FOUNDER EFFECT; HOMOZYGOTE; HUMANS; MUTATION, MISSENSE; NAILS, MALFORMED; PAKISTAN; PEDIGREE; THROMBOSPONDINS;

EID: 84870883114     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-120     Document Type: Article

References (17)

1. Der Kaloustin VM, Kurban AK. Genetic Diseases of the Skin 1979, Springer Verlag, Berlin.
2. Blaydon DC, Ishii Y, O'Toole EA, Unsworth HC, Teh M-T, Ruschendorf F, Sinclair C, Hopsu-Havu VK, Tidman N, Moss C, et al. The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet 2006, 38:1245-1247. 10.1038/ng1883, 17041604.
3. Bergmann C, Senderek J, Anhuf D, Thiel CT, Ekici AB, Poblete-Gutiérrez P, van Steensel M, Seelow D, Nürnberg G, Schild HH, et al. Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia. Am J Hum Genet 2006, 79:1105-1109. 10.1086/509789, 1698700, 17186469.
4. Bruchle NO, Frank J, Frank V, Senderek J, Akar A, Koc E, Rigopoulos D, van Steensel M, Zerres K, Bergmann C. RSPO4 Is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt Signaling Ligand R-Spondin 4. J Invest Dermatol 2007, 128:791-796.
5. Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, Nam J-S, Yoon JK, Kelsell DP, Christiano AM. Mutations in R-Spondin 4 (RSPO4) Underlie Inherited Anonychia. J Invest Dermatol 2007, 128:867-870.
6. Chishti MS, Kausar N, Rafiq MA, Amin M, Ahmad W. A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family. Br J Derm 2008, 158:621-623.
7. Wasif N, Ahmad W. A Novel Nonsense Mutation in RSPO4 Gene Underlies Autosomal Recessive Congenital Anonychia in a Pakistani Family. Ped Derm 2012, [Epub ahead of print].
8. Kazanskaya O, Glinka A, del Barco Barrantes I, Stannek P, Niehrs C, Wu W. R-Spondin2 is a secreted activator of Wnt/β-catenin signaling and is required for xenopus myogenesis. Dev Cell 2004, 7:525-534. 10.1016/j.devcel.2004.07.019, 15469841.
9. Kim K-A, Zhao J, Andarmani S, Kakitani M, Oshima T, Binnerts ME, Abo A, Tomizuka K, Funk WD. R-Spondin Proteins: a novel link to β-catenin activation. Cell Cycle 2006, 5:23-26. 10.4161/cc.5.1.2305, 16357527.
10. Nam J-S, Turcotte TJ, Smith PF, Choi S, Yoon JK. Mouse cristin/R-spondin family proteins are novel ligands for the frizzled 8 and LRP6 receptors and activate β-catenin-dependent gene expression. J Biol Chem 2006, 281:13247-13257. 10.1074/jbc.M508324200, 16543246.
11. Fröjmark A-S, Schuster J, Sobol M, Entesarian M, Kilander Michaela BC, Gabrikova D, Nawaz S, Baig Shahid M, Schulte G, Klar J, et al. Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia. Am J Hum Genet 2011, 88:852-860. 10.1016/j.ajhg.2011.05.013, 3113248, 21665003.
12. Adaimy L, Chouery E, Mégarbané H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Mégarbané A. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the Odonto-Onycho-Dermal Dysplasia. Am J Hum Genet 2007, 81:821-828. 10.1086/520064, 1973944, 17847007.
13. Nawaz S, Klar J, Wajid M, Aslam M, Tariq M, Schuster J, Baig SM, Dahl N. WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome. Eur J Hum Genet 2009, 17:1600-1605. 10.1038/ejhg.2009.81, 2987016, 19471313.
14. Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S, Sel S, Wieacker P, et al. WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet 2009, 85:97-105. 10.1016/j.ajhg.2009.06.001, 2706962, 19559398.
15. Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 1998, 19:47-50. 10.1038/ng0598-47, 9590287.
16. Jumlongras D, Bei M, Stimson JM, Wang W-F, DePalma SR, Seidman CE, Felbor U, Maas R, Seidman JG, Olsen BR. A nonsense mutation in MSX1 causes Witkop Syndrome. Am J Hum Genet 2001, 69:67-74. 10.1086/321271, 1226049, 11369996.
17. de Lau W, Snel B, Clevers H. The R-spondin protein family. Genome Biol 2012, 13:242. 10.1186/gb-2012-13-3-242, 22439850.