De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy

Neurology

Volumn 81, Issue 22, 2013, Pages 1953-1958

  Mademan, Inès ^a,b   Deconinck, Tine ^a,b   Dinopoulos, Argirios ^c,d   Voit, Thomas ^e   Schara, Ulrike ^f   Devriendt, Koenraad ^g   Meijers, Björn ^h   Lerut, Evelyne ^i,j   Jonghe, Peter De ^a,b,k   Baets, Jonathan ^a,b,k  

^a Neurogenetics Group   (United States)

^b Institute Born Bunge   (United States)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d NATIONAL AND KAPODISTRIAN UNIVERSITY OF ATHENS   (Greece)

^e Institute of Myology   (France)

^f UNIVERSITY OF DUISBURG ESSEN   (Germany)

^g UNIVERSITY OF OXFORD   (United Kingdom)

^h Department of Nephrology and Renal Transplantation ^*  (United States)

ⁱ UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^j DEPARTMENT OF IMAGING AND PATHOLOGY   (Belgium)

^k ANTWERP UNIVERSITY HOSPITAL   (Belgium)

more..

Author keywords

CDC42 5 cell division cycle 42; CMT 5 Charcot Marie Tooth; DAD 5 diaphanous autoregulatory domain; DID 5 diaphanous inhibitory domain; ESRD 5 end stage renal disease; FSGS 5 focal segmental glomerulosclerosis; INF2 5 inverted formin 2; MAL 5 myelin and lymphocyte protein.

Indexed keywords

INVERTED FORMIN 2; METHENAMINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE MUTATION; GENETIC SCREENING; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INTELLECTUAL IMPAIRMENT; KIDNEY FAILURE; MALE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; YOUNG ADULT;

ADOLESCENT; ADULT; CHARCOT-MARIE-TOOTH DISEASE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; MALE; MICROFILAMENT PROTEINS; MODELS, MOLECULAR; MUTATION; YOUNG ADULT;

EID: 84891909505     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000436615.58705.c9     Document Type: Article

References (15)

1. Boyer O, Nevo F, Plaisier E, et al. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. N Engl J Med 2011;365:2377-2388.
2. Barua M, Brown EJ, Charoonratana VT, Genovese G, Sun H, Pollak MR. Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. Kidney Int 2013; 83:316-322.
3. Boyer O, Benoit G, Gribouval O, et al. Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. J Am Soc Nephrol 2011;22: 239-245.
4. Pareyson D, Scaioli V, Laura M. Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. Neuromolecular Med 2006;8:3-22.
5. D'Agati VD, Kaskel FJ, Falk RJ. Focal segmental glomerulosclerosis. N Engl J Med 2011;365:2398-2411.
6. Chhabra ES, Higgs HN. INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization. J Biol Chem 2006;281:26754-26767.
7. Korobova F, Ramabhadran V, Higgs HN. An actin-dependent step in mitochondrial fission mediated by the ER-associated formin INF2. Science 2013;339:464-467.
8. Rodriguez PQ, Lohkamp B, Celsi G, et al. Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy. Pediatr Nephrol 2013; 28:339-343.
9. Toyota K, Ogino D, Hayashi M, et al. INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis. J Peripher Nerv Syst 2013;18:97-98.
10. Brown EJ, Schlondorff JS, Becker DJ, et al. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet 2010;42:72-76.
11. Chhabra ES, Ramabhadran V, Gerber SA, Higgs HN. INF2 is an endoplasmic reticulum-associated formin protein. J Cell Sci 2009;122:1430-1440.
12. Madrid R, Aranda JF, Rodriguez-Fraticelli AE, et al. The formin INF2 regulates basolateral-to-apical transcytosis and lumen formation in association with Cdc42 and MAL2. Dev Cell 2010;18:814-827.
13. Andres-Delgado L, Anton OM, Madrid R, Byrne JA, Alonso MA. Formin INF2 regulates MAL-mediated transport of Lck to the plasma membrane of human T lymphocytes. Blood 2010;116:5919-5929.
14. Frank M. MAL, a proteolipid in glycosphingolipid enriched domains: functional implications in myelin and beyond. Prog Neurobiol 2000;60:531-544.
15. Benninger Y, Thurnherr T, Pereira JA, et al. Essential and distinct roles for cdc42 and rac1 in the regulation of Schwann cell biology during peripheral nervous system development. J Cell Biol 2007;177:1051-1061.