Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

European Journal of Human Genetics

Volumn 19, Issue 6, 2011, Pages 647-654

  Yaou, Rabah Ben ^a,b,c   Navarro, Claire ^d   Quijano Roy, Susana ^a,b,e   Bertrand, Anne T ^a,b   Massart, Catherine ^a,b   De Sandre Giovannoli, Annachiara ^d   Cadĩanos, Juan ^f,h   Mamchaoui, Kamel ^a,b   Butler Browne, Gillian ^a,b   Estournet, Brigitte ^e   Richard, Pascale ^c   Barois, Annie ^e   Lévy, Nicolas ^d,g   Bonne, Gisèle ^a,b,c  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d AIX MARSEILLE UNIVERSITY   (France)

^e RAYMOND POINCARÉ HOSPITAL   (France)

^f DEPARTAMENTO DE BIOQUÍMICA Y BIOLOGÍA MOLECULAR   (Spain)

^g TIMONE HOSPITAL   (France)

^h Instituto de Medicina Oncologica y Molecular de Asturias   (Spain)

Author keywords

congenital myopathy; mandibuloacral dysplasia; prelamin A; secondary laminopathies; ZMPSTE24

Indexed keywords

EMERIN; LAMIN; LAMIN A; LAMIN C; PRELAMIN A; UNCLASSIFIED DRUG;

ANAMNESIS; ARTICLE; CELL SURVIVAL; CLINICAL FEATURE; GENE; GENETIC ANALYSIS; JAW MALFORMATION; MISSENSE MUTATION; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; WESTERN BLOTTING; ZMPSTE24 GENE;

ABNORMALITIES, MULTIPLE; ACRO-OSTEOLYSIS; ADULT; AMINO ACID SEQUENCE; CELL CULTURE TECHNIQUES; FEMALE; FIBROBLASTS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LAMIN TYPE A; LIPODYSTROPHY; MANDIBLE; MEMBRANE PROTEINS; METALLOENDOPEPTIDASES; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; MUTATION; MUTATION, MISSENSE; MYOPATHIES, STRUCTURAL, CONGENITAL; NUCLEAR PROTEINS; PHENOTYPE; PROGERIA; PROTEIN PRECURSORS;

EID: 79956306795     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.256     Document Type: Article

References (42)

1. Kilic F, Johnson DA, Sinensky M: Subcellular localization and partial purification of prelamin A endoprotease: an enzyme which catalyzes the conversion of farnesylated prelamin A to mature lamin A. FEBS Lett 1999; 450: 61-65. (Pubitemid 29206713)
2. Leung GK, Schmidt WK, Bergo MO et al: Biochemical studies of Zmpste24-deficient mice. J Biol Chem 2001; 276: 29051-29058.
3. Lutz RJ, Trujillo MA, Denham KS, Wenger L, Sinensky M: Nucleoplasmic localization of prelamin A: implications for prenylation-dependent lamin A assembly into the nuclear lamina. Proc Natl Acad Sci USA 1992; 89: 3000-3004.
4. Varela I, Pereira S, Ugalde AP et al: Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging. Nat Med 2008; 14: 767-772.
5. Sinensky M, Fantle K, Trujillo M, McLain T, Kupfer A, Dalton M: The processing pathway of prelamin A. J Cell Sci 1994; 107 (Part 1): 61-67. (Pubitemid 24039034)
6. Corrigan DP, Kuszczak D, Rusinol AE et al: Prelamin A endoproteolytic processing in vitro by recombinant Zmpste24. Biochem J 2005; 387: 129-138. (Pubitemid 40524082)
7. Broers J, Ramaekers F, Bonne G, Ben Yaou R, Hutchison C: The nuclear lamins: laminopathies and their role in premature ageing. Physiological Reviews 2006; 86: 967-1008. (Pubitemid 44042881)
8. Worman HJ, Bonne G: 'Laminopathies': a wide spectrum of human diseases. Exp Cell Res 2007; 313: 2121-2133. (Pubitemid 46850729)
9. Agarwal AK, Fryns JP, Auchus RJ, Garg A: Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet 2003; 12: 1995-2001. (Pubitemid 37038808)
10. Navarro C, De Sandre-Giovannoli A, Bernard R et al: Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganisation and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 2004; 13: 2493-2503. (Pubitemid 39377853)
11. Navarro CL, Cadinanos J, Sandre-Giovannoli AD et al: Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol Genet 2005; 14: 1503-1513. (Pubitemid 40823459)
12. Witt DR, Hayden MR, Holbrook KA, Dale BA, Baldwin VJ, Taylor GP: Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia. Am J Med Genet 1986; 24: 631-648. (Pubitemid 16056112)
13. Novelli G, Muchir A, Sangiuolo F et al: Mandibuloacral dysplasia is caused by a mutation in LMNA encoding lamins A/C. Am J Hum Genet 2002; 71: 426-431. (Pubitemid 34800259)
14. Shackleton S, Smallwood DT, Clayton P et al: Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype. J Med Genet 2005; 42: e36.
15. Denecke J, Brune T, Feldhaus T et al: A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson- Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS. Hum Mutat 2006; 27: 524-531. (Pubitemid 43865724)
16. Sander CS, Salman N, Van Geel M et al: A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East. Br J Dermatol 2008; 159: 961-967.
17. Smigiel R, Jakubiak A, Esteves-Vieira V et al: Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature. Am J Med Genet A 2010; 152A: 447-452.
18. Pendas AM, Zhou Z, Cadinanos J et al: Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice. Nat Genet 2002; 31: 94-99.
19. Bergo MO, Gavino B, Ross J et al: Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect. Proc Natl Acad Sci USA 2002; 99: 13049-13054.
20. Fong LG, Frost D, Meta M et al: A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria. Science 2006; 311: 1621-1623.
21. Ben Yaou R, Toutain A, Arimura T et al: Multitissular involvement in a family with LMNA and EMD mutations: role of digenic mechanism? Neurology 2007; 68: 1883-1894. (Pubitemid 46848620)
22. Muchir A, Medioni J, Laluc M et al: Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. Muscle Nerve 2004; 30: 444-450. (Pubitemid 39288147)
23. Decary S, Mouly V, Hamida CB, Sautet A, Barbet JP, Butler-Browne GS: Replicative potential and telomere length in human skeletal muscle: implications for satellite cell-mediated gene therapy. Hum Gene Ther 1997; 8: 1429-1438. (Pubitemid 27393998)
24. Thill M, Nguyen TD, Wehnert M et al: Restrictive dermopathy: a rare laminopathy. Arch Gynecol Obstet 2008; 278: 201-208.
25. Moulson CL, Go G, Gardner JM et al: Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. J Invest Dermatol 2005; 125: 913-919.
26. Morais P, Magina S, Ribeiro Mdo C et al: Restrictive dermopathy-a lethal congenital laminopathy. case report and review of the literature. Eur J Pediatr 2009; 168: 1007-1012.
27. Kariminejad A, Goodarzi P, Thanh Huong le T, Wehnert MS: Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family. Saudi Med J 2009; 30: 150-153.
28. Chen M, Kuo HH, Huang YC et al: A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene. Am J Med Genet A 2009; 149A: 1550-1554.
29. Jagadeesh S, Bhat L, Suresh I, Muralidhar SL: Prenatal diagnosis of restrictive dermopathy. Indian Pediatr 2009; 46: 349-351.
30. Li C: Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption. Am J Med Genet A 2010; 152A: 262-263.
31. Fong LG, Ng JK, Meta M et al: Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice. Proc Natl Acad Sci USA 2004; 101: 18111-18116. (Pubitemid 40054082)
32. Agarwal AK, Zhou XJ, Hall RK et al: Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. J Investig Med 2006; 54: 208-213. (Pubitemid 44330796)
33. Miyoshi Y, Akagi M, Agarwal AK et al: Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. Clin Genet 2008; 73: 535-544. (Pubitemid 351663934)
34. Cunningham VJ, D'Apice MR, Licata N, Novelli G, Cundy T: Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24. Bone 2010; 47: 591-597.
35. Goldman RD, Shumaker DK, Erdos MR et al: Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci USA 2004; 101: 8963-8968. (Pubitemid 38781594)
36. Agarwal AK, Kazachkova I, Ten S, Garg A: Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. J Clin Endocrinol Metab 2008; 93: 4617-4623.
37. Van Esch H, Agarwal AK, Debeer P, Fryns JP, Garg A: A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. J Clin Endocrinol Metab 2006; 91: 517-521. (Pubitemid 43236918)
38. Hennekam RC: Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A 2006; 140: 2603-2624. (Pubitemid 44865091)
39. Kirschner J, Brune T, Wehnert M et al: p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Ann Neurol 2005; 57: 148-151. (Pubitemid 40053329)
40. Madej-Pilarczyk A, Kmiec T, Fidzianska A et al: Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation. Eur J Paediatr Neurol 2008; 12: 427-430.
41. Zirn B, Kress W, Grimm T et al: Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. Am J Med Genet A 2008; 146A: 1049-1054.
42. Lombardi F, Gullotta F, Columbaro M et al: Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. J Clin Endocrinol Metab 2007; 92: 4467-4471. (Pubitemid 350074771)