Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China

BMC Pediatrics

Volumn 14, Issue 1, 2014, Pages

  Luo, Di Qing ^a   Wang, Xiao Zhu ^b   Meng, Yan ^c   He, Ding Yang ^a   Chen, Ying Ming ^a   Ke, Zhi Yong ^a   Yan, Ming ^b   Huang, Yu ^b   Chen, Da Fang ^b  

^a SUN YAT SEN UNIVERSITY   (China)

^b PEKING UNIVERSITY HEALTH SCIENCE CENTER   (China)

^c CHINESE PLA GENERAL HOSPITAL   (China)

Author keywords

Differential diagnosis; LMNA gene; Mandibuloacral dysplasia type A; Mutation; Progeria syndrome

Indexed keywords

BANF1 PROTEIN; CHINESE DRUG; GENOMIC DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LAMIN A; LAMIN C; LOW DENSITY LIPOPROTEIN CHOLESTEROL; PREDNISONE; PROTEIN; UNCLASSIFIED DRUG; ZMPSTE24 PROTEIN;

ACROOSTEOLYSIS; AIRWAY OBSTRUCTION; ALOPECIA; ANUS FISSURE; ARM SWELLING; ARTHRALGIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHINA; CHINESE MEDICINE; CHOLESTEROL BLOOD LEVEL; CIRCUMORAL CYANOSIS; CORTICOSTEROID THERAPY; CROWDING (TOOTH); CYANOSIS; DEFECATION DISORDER; DIAGNOSTIC KIT; DISEASE ASSOCIATION; DYSPHAGIA; DYSPLASIA; EXON; EYEBROW; FAILURE TO THRIVE; FAMILY; FEMALE; FINGER JOINT; FOLLOW UP; GENE MUTATION; GENETIC ANALYZER; HUMAN; HUMAN TISSUE; HYPERMYOTONIA; HYPERPIGMENTATION; HYPOPIGMENTATION; JOINT STIFFNESS; LEG SWELLING; LIPODYSTROPHY; MALE; MANDIBLE HYPOPLASIA; MANDIBULOACRAL DYSPLASIA TYPE A; MUSCLE BIOPSY; MYOTONIA; PEDIGREE; PRESCHOOL CHILD; PROGERIA; RARE DISEASE; SCALP HAIR; SCHOOL CHILD; SCLERODERMA; SHORT STATURE; THORAX RADIOGRAPHY; TREATMENT DURATION; VOMITING; ABNORMALITIES; ASIAN CONTINENTAL ANCESTRY GROUP; GENETICS; HOMOZYGOTE; INFANT; MANDIBLE; MUTATION; OSTEOLYSIS; SIBLING;

ACRO-OSTEOLYSIS; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHINA; FEMALE; HOMOZYGOTE; HUMANS; INFANT; LAMIN TYPE A; LIPODYSTROPHY; MALE; MANDIBLE; MUTATION; OSTEOLYSIS; PEDIGREE; PROGERIA; RARE DISEASES; SIBLINGS;

EID: 84908058862     PISSN: None     EISSN: 14712431     Source Type: Journal    
DOI: 10.1186/1471-2431-14-256     Document Type: Article

References (26)

1. Young LW, Radebaugh JF, Rubin P, Sensenbrenner JA, Fiorelli G. New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. Birth Defects Orig Art Ser 1971, 7:291-297.
2. Simha V, Agarwal AK, Oral EA, Fryns JP, Garg A. Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. J Clin Endocrinol Metab 2003, 88:2821-2824. 10.1210/jc.2002-021575, 12788894.
3. Simha V, Garg A. Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. J Clin Endocrinol Metab 2002, 87:776-785. 10.1210/jcem.87.2.8258, 11836320.
4. Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet 2002, 71:426-431. 10.1086/341908, 379176, 12075506.
5. Agarwal AK, Fryns JP, Auchus RJ, Garg A. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet 2003, 12:1995-2001. 10.1093/hmg/ddg213, 12913070.
6. Garavelli L, D'Apice MR, Rivieri F, Bertoli M, Wischmeijer A, Gelmini C, De Nigris V, Albertini E, Rosato S, Virdis R, Bacchini E, Dal Zotto R, Banchini G, Iughetti L, Bernasconi S, Superti-Furga A, Novelli G. Mandibuloacral dysplasia type A in childhood. Am J Med Genet 2009, 149A:2258-2264. 10.1002/ajmg.a.33005, 19764019.
7. Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child 1936, 11:1-8. 10.1136/adc.11.61.1, 1975412, 21032019.
8. Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992, 42:68-84. 10.1002/ajmg.1320420115, 1308368.
9. Hennekam RCM. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet 2006, 140A:2603-2624.
10. Cabanillas R, Cadinanos J, Villameytide JAF, Perez M, Longo J, Richard JM, Alvarez R, Duran NS, Illan R, Gonzalez DJ, Lopez-Otin C. Nestor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations. Am J Med Genet 2011, 155A:2617-2625.
11. Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K. Mutations in the gene enconding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999, 21:285-288. 10.1038/6799, 10080180.
12. Muchir A, Bonne G, Van der Kooi AJ, Van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances(LGMD1B). Hum Mol Genet 2000, 9:1453-1459. 10.1093/hmg/9.9.1453, 10814726.
13. Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Muehle G, Johnson W, McDonough B. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999, 341:1715-1724. 10.1056/NEJM199912023412302, 10580070.
14. De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Levy N. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human(Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet 2002, 70:726-736. 10.1086/339274, 384949, 11799477.
15. Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O Rahilly S, Trembath RC. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 2000, 24:153-156. 10.1038/72807, 10655060.
16. Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identity restrictive dermopathy as a lethal neonatal laminopathy. Hum Molec Genet 2004, 13:2493-2503. 10.1093/hmg/ddh265, 15317753.
17. Ahmad Z, Zackai E, Medne L, Garg A. Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. Am J Med Genet A 2010, 152A:2703-2710. 10.1002/ajmg.a.33664, 2965306, 20814950.
18. Agarwal AK, Kazachkova I, Ten S, Garg A. Severe mandibuloacral dysplasia-assocaiated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. J Clin Endrocrino Metab 2008, 93:4617-4623.
19. Kirschner J, Brune T, Wehnert M, Denecke J, Wasner C, Feuer A, Marquardt T, Ketelsen U-P, Wieacker P, Bönnemann CG, Korinthenberg R. p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Ann Neurol 2005, 57:148-151. 10.1002/ana.20359, 15622532.
20. Verstraeten VL, Broers JL, Ramaekers FC, van Steensel MA. The nuclear envelope, a key structure in cellular integrity and gene expression. Curr Med Chem 2007, 14:1231-1248. 10.2174/092986707780598032, 17504143.
21. Maraldi NM, Capanni C, Cenni V, Fini M, Lattanzi G. Laminopathies and lamin-associated signaling pathways. J Cell Biochem 2011, 112:979-992. 10.1002/jcb.22992, 21400569.
22. Al-Haggar M, Mdej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M. A novel homozygous p. Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome. Eur J Hum Genet 2012, 20:1134-1140. 10.1038/ejhg.2012.77, 3476705, 22549407.
23. Shen JJ, Brown CA, Lupski JR, Potocki L. Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. J Med Genet 2003, 40:854-857. 10.1136/jmg.40.11.854, 1735303, 14627682.
24. Garg A, Cogulu O, Ozkinay F, Onay H, Agarwal AK. A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. J Clin Endocrinol Metab 2005, 90:5259-5264. 10.1210/jc.2004-2560, 15998779.
25. Xiong Z, Lu Y, Xue J, Luo S, Xu X, Zhang L, Peng H, Li W, Chen D, Hu Z, Xia K. Hutchinson-Gilford progeria syndrome accomopanied by severe skeletal abnormalities in two Chinese siblings: two case reports. J Med Case Rep 2013, 7:63. 10.1186/1752-1947-7-63, 3602076, 23497705.
26. Liang L, Zhang H, Gu X. Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance. Acta Paediatr 2009, 98:1365-1368. 10.1111/j.1651-2227.2009.01324.x, 19432833.