An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome

International Journal of Molecular Medicine

Volumn 32, Issue 1, 2013, Pages 174-178

  Dworschak, Gabriel C ^a   Draaken, Markus ^a   Hilger, Alina ^a   Born, Mark ^a   Reutter, Heiko ^a   Ludwig, Michael ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

Carpal bones; Incomplete penetrance; Modifier gene; Osteolysis; Skeletal dysplasia; Tarsal bones; V maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) gene

Indexed keywords

TRANSCRIPTION FACTOR MAFB;

ADOLESCENT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; CARPAL BONE; CASE REPORT; CRANIOFACIAL MALFORMATION; FOOT RADIOGRAPHY; GENETIC VARIABILITY; HAND RADIOGRAPHY; HUMAN; KIDNEY FAILURE; MALE; MISSENSE MUTATION; MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; OSTEOLYSIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TARSAL BONE;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; GENETIC VARIATION; HAND BONES; HUMANS; MAFB TRANSCRIPTION FACTOR; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OSTEOLYSIS; PEDIGREE; PENETRANCE; SEQUENCE ALIGNMENT;

EID: 84878247082     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.2013.1373     Document Type: Article

References (23)

1. Jackson JBS: A boneless arm. Boston Med Surg J 18: 368-369, 1838.
2. Tyler T and Rosenbaum HD: Idiopathic multicentric osteolysis. AJR Am J Roentgenol 126: 23-31, 1976.
3. Hall M: International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet 113: 65-77, 2002.
4. Faber MR, Verlaak R, Fiselier TJ, Hamel BC, Franssen MJ and Gerrits GP: Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis. Eur J Pediatr 163: 612-618, 2004. (Pubitemid 39362538)
5. Pai GS and Macpherson RI: Idiopathic multicentric osteolysis: report of two new cases and review of the literature. Am J Med Genet 29: 929-936, 1988.
6. Carnevale A, Canún S, Mendoza L and del Castillo V: Idiopathic multicentric osteolysis with facial anomalies and nephropathy. Am J Med Genet 26: 877-886, 1987. (Pubitemid 17059945)
7. Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor MC, Herlin T, Kim CA, Leheup BP, McGill J, et al: Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. Am J Hum Genet 90: 494-501, 2012.
8. Cordes SP and Barsh GS: The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor. Cell 79: 1025-1034, 1994.
9. Sadl V, Jin F, Yu J, Cui S, Holmyard D, Quaggin S, Barsh G and Cordes S: The mouse Kreisler (Krml1/MafB) segmentation gene is required for differentiation of glomerular visceral epithelial cells. Dev Biol 249: 16-29, 2002.
10. Nishimura W, Kondo T, Salameh T, El Khattabi I, Dodge R, Bonner-Weir S and Sharma A: A switch from MafB to MafA expression accompanies differentiation to pancreatic beta-cells. Dev Biol 293: 526-539, 2006.
11. Artner I, Blanchi B, Raum JC, Guo M, Kaneko T, Cordes S, Sieweke M and Stein R: MafB is required for islet beta cell maturation. Proc Natl Acad Sci USA 104: 3853-3858, 2007. (Pubitemid 47181543)
12. Kim K, Kim JH, Lee J, Jin HM, Kook H, Kim KK, Lee SY and Kim N: MafB negatively regulates RANKL-mediated osteoclast differentiation. Blood 109: 3253-3259, 2007. (Pubitemid 46572510)
13. Moriguchi T, Hamada M, Morito N, Terunuma T, Hasegawa K, Zhang C, Yokomizo T, Esaki R, Kuroda E, Yoh K, et al: MafB is essential for renal development and F4/80 expression in macro phages. Mol Cell Biol 26: 5715-5727, 2006. (Pubitemid 44134328)
14. Draaken M, Giesen CA, Kesselheim AL, Jabs R, Aretz S, Kugaudo M, Chrzanowska KH, Krajewska-Walasek M and Ludwig M: Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family. Hum Genet 129: 513-519, 2011.
15. Hezard N, Cornillet P, Droulle C, Gillot L, Potron G and Nguyen P: Factor V Leiden: detection in whole blood by ASA PCR using an additional mismatch in antepenultimate position. Thromb Res 88: 59-66, 1997.
16. Kawamura S, Ikeda Y, Tomita K, Watanabe N and Seki K: A family of hypokalemic periodic paralysis with CACNA1S gene mutation showing incomplete penetrance in women. Intern Med 43: 218-222, 2004. (Pubitemid 38489116)
17. Oprea GE, Kröber S, McWhorter ML, Rossoll W, Müller S, Krawczak M, Bassell GJ, Beattie CE and Wirth B: Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science 320: 524-527, 2008. (Pubitemid 351590664)
18. Leach RJ, Singer FR, Ench Y, Wisdom JH, Pina DS and Johnson-Pais TL: Clinical and cellular phenotypes associated with sequestosome 1 (SQSTM1) mutations. J Bone Miner Res 21 (Suppl 2): P45-P50, 2006.
19. Uppal S, Bajaj Y, Rustom I and Coatesworth AP: Otosclerosis 1: the aetiopathogenesis of otosclerosis. Int J Clin Pract 63: 1526-1530, 2009.
20. Asai-Coakwell M, French CR, Ye M, Garcha K, Bigot K, Perera AG, Staehling-Hampton K, Mema SC, Chanda B, Mushegian A, et al: Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum Mol Genet 18: 1110-1121, 2009.
21. Blanchi B, Kelly LM, Viemari JC, Lafon I, Burnet H, Bévengut M, Tillmanns S, Daniel L, Graf T, Hilaire G and Sieweke MH: MafB deficiency causes defective respiratory rhythmogenesis and fatal central apnea at birth. Nat Neurosci 6: 1091-1099, 2003. (Pubitemid 37186202)
22. Eichmann A, Grapin-Botton A, Kelly L, Graf T, Le Douarin NM and Sieweke M: The expression pattern of the mafB/ kr gene in birds and mice reveals that the kreisler phenotype does not represent a null mutant. Mech Dev 65: 111-122, 1997. (Pubitemid 27314594)
23. enu mutation reveals multiple roles of Kreisler in hindbrain segmentation. Dev Dyn 227: 134-142, 2003.