Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 12, 2008, Pages 4617-4623

  Agarwal, Anil K ^a   Kazachkova, Irina ^b   Ten, Svetlana ^b   Garg, Abhimanyu ^a,c  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b MAIMONIDES MEDICAL CENTER   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME INHIBITOR; FTI III; GGT 297; GROWTH HORMONE; LAMIN; LAMIN A; LAMIN C; N [[5 [(2 AMINO 3 MERCAPTOPROPYL)AMINO][1,1' BIPHENYL] 2 YL]CARBONYL]METHIONINE METHYL ESTER; PROTEIN FARNESYLTRANSFERASE INHIBITOR; PROTEIN LMNA; TRICHOSTATIN A; UNCLASSIFIED DRUG;

BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; CONSANGUINITY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; FEMALE; GENE MUTATION; HOMOZYGOSITY; HORMONAL THERAPY; HUMAN; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; IN VITRO STUDY; JAW MALFORMATION; LIPODYSTROPHY; MANDIBLE HYPOPLASIA; MANDIBULOACRAL DYSPLASIA; MISSENSE MUTATION; OCCIPITAL CORTEX; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROGERIA; SCHOOL CHILD; SKIN FIBROBLAST; TEMPORAL CORTEX;

EID: 57349129333     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-0123     Document Type: Conference Paper

References (27)

1. Simha V, Garg A 2002 Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. J Clin Endocrinol Metab 87:776-785
2. Simha V, Agarwal AK, Oral EA, Fryns JP, Garg A 2003 Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. J Clin Endocrinol Metab 88:2821-2824
3. 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 2002 Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet 71:426-431
4. Plasilova M, Chattopadhyay C, Pal P, Schaub NA, Buechner SA, Mueller H, Miny P, Ghosh A, Heinimann K 2004 Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. J Med Genet 41:609-614
5. Garg A, Cogulu O, Ozkinay F, Onay H, Agarwal AK 2005 A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. J Clin Endocrinol Metab 90:5259-5264
6. Shen JJ, Brown CA, Lupski JR, Potocki L 2003 Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. J Med Genet 40:854-857
7. Agarwal AK, Fryns JP, Auchus RJ, Garg A 2003 Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet 12:1995-2001
8. Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y 2007 Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes. Am J Med Genet A 143:2598-2603
9. Lombardi F, Gullotta F, Columbaro M, Filareto A, D'Adamo M, Vielle A, Guglielmi V, Nardone AM, Azzolini V, Grosso E, Lattanzi G, D'Apice MR, Masala S, Maraldi NM, Sbraccia P, Novelli G 2007 Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. J Clin Endocrinol Metab 92:4467-4471
10. Agarwal AK, Zhou XJ, Hall RK, Nicholls K, Bankier A, Van Esch H, Fryns J-P, Garg A 2006 Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia due to zinc metalloproteinase deficiency. J Invest Med 54:208-213
11. Denecke J, Brune T, Feldhaus T, Robenek H, Kranz C, Auchus RJ, Agarwal AK, Marquardt T 2006 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 27:524-531
12. Shackleton S, Smallwood DT, Clayton P, Wilson LC, Agarwal AK, Garg A, Trembath RC 2005 Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype. J Med Genet 42:e36
13. Lin F, Worman HJ 1993 Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem 268:16321-16326
14. Jacob KN, Baptista F, dos Santos HG, Oshima J, Agarwal AK, Garg A 2005 Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation. J Clin Endocrinol Metab 90:6699-6706
15. Cao H, Hegele RA 2003 LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet 48:271-274
16. Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon 3rd RO, Gahl WA, Introne WJ 2008 Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med 358:592-604
17. Hennekam RC 2006 Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A 140:2603-2624
18. Dhe-Paganon S, Werner ED, Chi YI, Shoelson SE 2002 Structure of the globular tail of nuclear lamin. J Biol Chem 277:17381-17384
19. Filesi I, Gullotta F, Lattanzi G, D'Apice MR, Capanni C, Nardone AM, Columbaro M, Scarano G, Mattioli E, Sabatelli P, Maraldi NM, Biocca S, Novelli G 2005 Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. Physiol Genomics 23:150-158
20. Meaburn KJ, Cabuy E, Bonne G, Levy N, Morris GE, Novelli G, Kill IR, Bridger JM 2007 Primary laminopathy fibroblasts display altered genome organization and apoptosis. Aging Cell 6:139-153
21. Varela I, Pereira S, Ugalde AP, Navarro CL, Suárez MF, Cau P, Cadiñanos J, Osorio FG, Foray N, Cobo J, de Carlos F, Lévy N, Freije JMP, López-Otín C 2008 Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging. Nat Med 14:767-772
22. Glynn MW, Glover TW 2005 Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition. Hum Mol Genet 14:2959-2969
23. Capell BC, Erdos MR, Madigan JP, Fiordalisi JJ, Varga R, Conneely KN, Gordon LB, Der CJ, Cox AD, Collins FS 2005 Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci USA 102:12879-12884
24. Columbaro M, Capanni C, Mattioli E, Novelli G, Parnaik VK, Squarzoni S, Maraldi NM, Lattanzi G 2005 Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment. Cell Mol Life Sci 62:2669-2678
25. Pan Y, Garg A, Agarwal AK 2007 Mislocalization of prelamin A Tyr646Phe mutant to the nuclear pore complex in human embryonic kidney 293 cells. Biochem Biophys Res Comm 355:78-84
26. Nitta RT, Jameson SA, Kudlow BA, Conlan LA, Kennedy BK 2006 Stabilization of the retinoblastoma protein by A-type nuclear lamins is required for INK4A-mediated cell cycle arrest. Mol Cell Biol 26:5360-5372
27. Dezenberg CV, Nagy TR, Gower BA, Johnson R, Goran MI 1999 Predicting body composition from anthropometry in pre-adolescent children. Int J Obes Relat Metab Disord 23:253-259