A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: Proposal of a rapid enzymatic assay for screening mentally retarded patients

Journal of Medical Genetics

Volumn 40, Issue 1, 2003, Pages 11-17

  Longo, I ^a   Schwartz, C ^e   Renieri, A ^a   Froyen, G ^b   Frints, S G M ^b   Fryns, J P ^c   Meloni, I ^a   Pescucci, C ^a   Ariani, F ^a   Borghgraef, M ^c   Raynaud, M ^d   Marynen, P ^b  

^a UNIVERSITY OF SIENA   (Italy)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d INSERM   (France)

^e GREENWOOD GENETIC CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE; LONG CHAIN FATTY ACID COENZYME A LIGASE; LONG CHAIN FATTY ACID COENZYME A LIGASE 4; LUCIFERASE; PROLINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME XQ; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ASSAY; FAMILY; FEMALE; GENE DELETION; GENE EXPRESSION; GENE LOCATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOSITY; HUMAN; LEUKOCYTE; LINKAGE ANALYSIS; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

EID: 0037238316     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.1.11     Document Type: Article

References (50)

1. American Psychiatric Association. Diagnostic and statistical manual of mental disorders. DSM-IV. Washington (DC): American Psychiatric Association, 1994.
2. Neri G, Chiurazzi P. X-linked mental retardation. Adv Genet 1999;41:55-94.
3. Hagberg B, Kyllerman, M. Epidemiology of mental retardation - a Swedish survey. Brain Dev 1983;5:441-9.
4. Turner G. Finding genes on the X chromosome by which homo may have become sapiens. Am J Hum Genet 1996;58:1109-10.
5. Turner G, Turner B. X-linked mental retardation. J Med Genet 1974;11:109-13.
6. Chelly J, Mandel J. Monogenic causes of X-linked mental retardation. Nat Rev Genet. 2001;2:669-80.
7. Gecz J, Gedeon A, Sutherland G, Mulley J. Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet 1996;13:105-8.
8. Gu Y, Shen Y, Gibbs R, Nelson D. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet 1996;13:109-13.
9. D'Adamo P, Menegon A, Lo Nigro C, Grasso M, Gulisano M, Tamanini F, Bienvenu T, Gedeon A, Oostra B, Wu S, Tandan A, Valtorta F, Balch W, Chelly J, Toniolo D. Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat Genet 1998;19:134-9.
10. Zemni R, Bienvenu T, Vinet M, Sefiani A, Carrie A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, Bokhoven H, Ropers H, Sudbrak R, Kahn A, Fryns J, Beldjord C. A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat Genet 2000;24:167-70.
11. Carrie A, Jun L, Bienvenu T, Vinet M, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers H, Strom T, Hawell G, Whittaker A, Ross M, Kahn A, Fryns J, Beldjord C, Marynen P, Chelly J. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet 1999;23:25-31.
12. Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet M, Zemni R, Roest Crollius H, Carrie A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns J, Beldjord C, Kahn A, Moraine C, Chelly J. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 1998;392:923-6.
13. Allen KM, Gleeson JG, Bagrodia S, Partington MW, MacMillian JC, Cerione RA, Mulley JC, Walsh CA. PAK3 mutation in nonsyndromic X-linked mental retardation. Nat Genet 1998;20:25-30.
14. Bienvenu T, des Portes V, McDonell N, Carrie A, Zemni R, Couvert P, Ropers H, Moraine C, van Bokhoven H, Fryns J, Allen K, Walsh C, Boue J, Kahn A, Chelly J, Beldjord C. Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. Am J Med Genet 2000;93:294-8.
15. Kutsche K, Yntema H, Brandt A, Jantke I, Nothwang H, Orth U, Boavida M, David D, Chelly J, Fryns J, Moraine C, Ropers H, Hamel B, van Bokhoven H, Gal A. Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet 2000;26:247-50.
16. Merienne K, Jacquot S, Pannetier S, Zeniou M, Bankier A, Gecz J, Mandel JL, Mulley J, Sassone-Corsi P, Hanauer A. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nat Genet 1999;22:13-14.
17. Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gencrot C, Verloes A, Andres C, Le Fevre AC, Souville I, Steffann J, des Portes V, Ropers HH, Yntema HG, Fryns JP, Briault S, Chelly J, Cherif B. MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet 2001;10:941-6.
18. Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet M, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns J, Desportes V, Beldjord C, Chelly J. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 2002;11:981-91.
19. Stromme P, Mangelsdorf M, Shaw M, Lower K, Lewis S, Bruyere H, Lutcherath V, Gedeon A, Wallace R, Scheffer I, Turner G, Partington M, Frints S, Fryns J, Sutherland G, Mulley J, Gecz J. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002;30:441-5.
20. Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini M, Moizard M, Gomot M, Chelly J, das Portes V, Fryns J, Ropers H, Magi B, Bellan C, Volpi N, Yntema H Lewis S, Schaffer J, Renieri, A. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat Genet 2002;30:436-40.
21. Jonsson J, Renieri A, Gallagher P, Kashtan CE, Cherniske EM, Bruttini M, Piccini M, Vitelli F, Ballabio B, Pober BR. Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X-linked contiguous gene deletion syndrome? J Med Genet 1998;35:273-8.
22. Piccini M, Vitelli F, Bruttini M, Pober B, Jonsson JJ, Villanova M, Zollo M, Borsani G, Ballabio A, Renieri A. FACL4, a new gene encoding long chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis and mental retardation. Genomics 1998;47:350-8.
23. Meloni I, Vitelli F, Pucci L, Lowry B, Tonlorenzi R, Rossi E, Ventura M, Rizzoni G, Kashtan CE, Pober B, Renieri A. Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). J Med Genet 2002;39:359-65.
24. Borghgraef M, Sacco S, Gomot M, De Vos B, Jacobs A, Buret V, Desportes V. Neuro-cognitive and behavioural aspects in non-specific mental retardation. A proposal for phenotyping new XLMR genes. Genet Couns 2002;13:195-8.
25. Van Haasen P, De Bruyn E, Pijl Y, Poortinga Y, Spelberg H, Vander Steene G, Coetsier P, Spoelders-Claes R, Stinissen J. Wechsler Intelligence Scale for Children Revised (WISC-R): Handleiding, scoring en normen. The Netherlands: Lisse, 1986.
26. Stinissen J, Willems PJ, Coetsier P, Hulsman WL. Wechsler Adult Intelligence Scale (WAIS): Handleiding bij de Nederlandse bewerking. The Netherlands: Lisse, 1970.
27. Achenbach TM. Intergrative guide for the CBCL 4-18, YRS and TRF profiles. Burlington, University of Vermont, Department of Psychiatry, 1991.
28. Bryant B, Taylor R, Pedrotty Rivera, D. Assessment of adaptive areas. A method for obtaining scores that correspond to the American association on mental retardation's adaptive areas. Examiner's manual. PRO-ED Inc, 1996:1-23.
29. Gu XX, Decorte R, Marynen P, Fryns JP, Cassiman JJ, Raemaekers P. Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35). J Med Genet 1996b;33:52-5.
30. Raynaud M, Ronce N, Moizard M, Briault S, Frints S, Yntema H, Des Portes V, Kalscheuer V, Chelly J, Moraine C. Extremely skewed X-inactivation profile in XLMR carriers in some families. Genet Couns 2002;13:244.
31. Chudley AE, Tackels DC, Lubs HA, Arena JF, Stoeber WP, Kovnats S, Stevenson RE, Schwartz CE. X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23. Am J Med Genet 1999;85:255-62.
32. Arena J, Schwartz C, Stevenson R, Lawrence L, Carpenter A, Duara R, Ledbetter D, Huang T, Lehner T, Ott J. Spastic paraplegia with iron deposits in the basal ganglia: a new X-linked mental retardation syndrome. Am J Med Genet. 1992;43:479-90.
33. Graham J Jr, Tackels D, Dibbern K, Superneau D, Rogers C, Coming K, Schwartz C. FG syndrome: report of three new families with linkage to Xq12-q22.1. Am J Med Genet 1998;80:145-56.
34. Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-6.
35. Cottingham R Jr, Idury R, Schaffer A. Faster sequential genetic linkage computations. Am J Hum Genet 1993;53:252-63.
36. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-4.
37. Raynaud M, Moizard MP, Dessay B, Briault S, Toutain A, Gendrot C, Ronce N, Moraine C. Systematic analysis of X-inactivation in 19 XLMR families: extremely skewed profiles in carriers in three families. Eur J Hum Genet 2000;B:253-8.
38. Brown T, Tarleton J, Go R, Longshore J, Descartes M. Instability of the FMR2 trinucleotide repeat region associated with expanded FMR alleles. Am J Med Genet. 1997;73:447-55.
39. Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J, Tommerup N, Van Der Hagen C, DeLozier-Blanchet C, Croquette M. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med. 1991;325:1673-81.
40. Chiurazzi P, Hamel BCJ, Neri G. XLMR genes: update 2000. Eur J Hum Genet 2001;9:71-81.
41. Singh I, Lazo O, Dhaunsi G, Contreras M. Transport of fatty acids into human and rat peroxisomes. J Biol Chem 1992;1992:13306-13.
42. Cao Y, Traer E, Zimmerman GA, McIntyre TM, Prescott SM. Cloning, expression, and chromosomal localization of human long-chain fatty acid-CoA ligase 4 (FACL4). Genomics 1998;49:327-330.
43. Willatts P, Forsyth J. The role of long-chain polyunsaturated fatty acids in infant cognitive development. Prostaglandins Leukot Essent Fatty Acids. 2000;63:95-100.
44. Bronfman M, Morales MN, Orellana A. Diacylglycerol activation of protein kinase C is modulated by long chain acyl-CoA. Biochem Biophys Res Commun 1988;159:1026-31.
45. de Urquiza AM, Liu S, Sjoberg M, Zetterstrom RH, Griffiths W, Sjovall J, Perlmann T. Docosahexaenoic acid, a ligand for the retinoid X receptor in mouse brain. Science 2000;290:2140-4.
46. Horrocks L. Phospholipids in nervous tissues. In: Eichberg J, ed. Metabolism and function of fatty acids in brain. New York: Wiley, 1985:173-99.
47. Rapoport S, Chang M, Spector A. Delivery and turnover of plasma-derived essential PUFAs in mammalian brain. J Lipid Res 2001;42:678-85.
48. Faergeman NJ, and Knudsen J. Role of long-chain fatty acyl-CoA esters in the regulation of metabolism and in cell signaling. Biochem J 1997;323:1-12.
49. Martin D, Lonergan P, Boland B, Fogarty M, Brady M, Horrobin D, Campbell V, Ma L. Apoptotic changes in the aged brain are triggered by IL-1beta -induced activation of p38 and reversed by treatment with eicosapentaenoic acid. J Biol Chem (in press).
50. Lonergan P, Martin D, Horrobin D, Ma L. Neuroprotective effect of eicosapentaenoic acid in hippocampus of rats exposed to gamma-irradiation. J Biol Chem 2002;277:20804-11.