Phenotypic variation and FMRP levels in fragile X

Wiley - Tập 10 Số 1 - Trang 31-41 - 2004
Danuta Z. Loesch1, Richard Huggins2, Randi J. Hagerman3
1School of Psychological Science, La Trobe University, Melbourne, Australia
2Department of Mathematics and Statistics, La Trobe University, Melbourne, Australia
3M.I.N.D. Institute, and Department of Pediatrics, University of California, Davis, Sacramento, California

Tóm tắt

AbstractData on the relationships between cognitive and physical phenotypes, and a deficit of fragile X mental retardation 1 (FMR1) gene‐specific protein product, FMRP, are presented and discussed in context with earlier findings. The previously unpublished results obtained, using standard procedures of regression and correlations, showed highly significant associations in males between FMRP levels and the Wechsler summary and subtest scores and in females between these levels and the full‐scale intelligence quotient (FSIQ), verbal and performance IQ, and some Wechsler subtest scores. The published results based on data from 144 extended families with fragile X, recruited from Australia and the United States within a collaborative NIH‐supported project, were obtained using robust modification of maximum likelihood in pedigrees. The results indicated that processing speed, short‐term memory, and the ability to control attention, especially in the context of regulating goal‐directed behavior, may be primarily affected by the FMRP depletion. The effect of this depletion on physical phenotype was also demonstrated, especially on body and head height and extensibility of finger joints. It is recommended that further studies should rely on more accurate measures of FMRP levels, and use of larger samples, to overcome extensive variability in the data. MRDD Research Reviews 2004;10:31–41. © 2004 Wiley‐Liss, Inc.

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Tài liệu tham khảo

10.1002/ajmg.1320510407

Allingham Hawkins DJ, 1996, Tissue‐specific methylation differences and cognitive function in Fragile X premutation females, Am J Med Genet, 64, 329, 10.1002/(SICI)1096-8628(19960809)64:2<329::AID-AJMG19>3.0.CO;2-H

10.1023/A:1010747131386

10.1352/0895-8017(2001)106<0016:VIFAED>2.0.CO;2

10.1037/0033-2909.121.1.65

Bennetto L, 2002, Fragile X Syndrome: Diagnosis, Treatment, and Research, 206

10.1073/pnas.94.10.5401

10.1093/hmg/6.9.1465

10.1016/S0028-3932(97)00162-0

10.1016/S0010-9452(08)70799-8

10.1162/089892901564126

10.1016/0028-3932(90)90082-Y

de Vries BB, 1996, Mental status of females with an FMR1 gene full mutation, Am J Med Genet, 58, 1025

10.1038/ng0893-335

10.1002/(SICI)1096-8628(19960809)64:2<296::AID-AJMG13>3.0.CO;2-A

10.1097/00004583-200203000-00002

10.1002/ajmg.1320380409

Grigsby J, 1996, Behavioral Dyscontrol Scale: Manual

10.1590/S0004-282X1998000100003

10.1016/S0959-437X(02)00299-X

10.1212/WNL.57.1.127

HeatonRK CheluneGJ TalleyJL et al.1993.Wisconsin Card Sorting Test Manual Revised and Expanded.Psychological Assessment Services Inc.

10.1542/peds.108.5.e88

10.1038/ng0193-36

10.1111/j.1467-842X.1993.tb01311.x

Irwin SA, 2002, Fragile X Syndrome: Diagnosis, Treatment and Research, 191

10.1086/374321

10.1002/(SICI)1096-8628(19990402)83:4<286::AID-AJMG10>3.0.CO;2-H

10.1093/hmg/10.14.1449

10.1176/appi.ajp.158.7.1040

Lange K, 1976, Extensions to pedigree analysis. III. Variance components by the scoring method, Ann Hum Genet, 50, 385

10.1080/01621459.2000.10474229

10.1002/ajmg.a.20214

10.1037/0894-4105.17.4.646

Loesch DZ, 1993, Genotype‐phenotype relationships in Fragile X syndrome: a family study, Am J Hum Genet, 53, 1064

10.1097/00004703-200212000-00004

10.1002/ajmg.a.10099

10.1002/ajmg.1320580311

10.1002/ajmg.10129

10.1002/ajmg.1320300113

10.1002/(SICI)1096-8628(19960809)64:2<309::AID-AJMG15>3.0.CO;2-J

10.1097/00004703-199310000-00007

10.1002/hbm.10035

Meyers JE, 1995, Rey Complex Figure Test and Recognition Trial Manual

10.1002/hipo.10005

MunirF CornishKM WildingJ.1998.Patterns of attention deficit in Fragile X syndrome: a neuropsychological perspective. Paper presented at Sixth International Fragile X Syndrome Conference. Ashville USA

10.1016/S0028-3932(00)00036-1

10.1002/ajmg.1320170105

10.1016/0092-8674(91)90125-I

10.1002/1098-2779(2000)6:3<186::AID-MRDD6>3.0.CO;2-9

10.1352/0895-8017(1998)102<0590:PIIFWT>2.0.CO;2

10.1002/hbm.10048

Sattler JM, 1992, The Assessment of Children: Revised and Updated

10.1002/(SICI)1096-8628(19960809)64:2<340::AID-AJMG21>3.0.CO;2-E

10.1002/ajmg.1320430110

10.1002/(SICI)1096-8628(19990528)84:3<250::AID-AJMG17>3.0.CO;2-4

10.1086/302720

10.1002/(SICI)1096-8628(20000313)91:2<144::AID-AJMG14>3.0.CO;2-V

Taylor AK, 1994, Molecular predictors of cognitive involvement in female carriers of Fragile X syndrome, J Am Med Assoc, 271, 507, 10.1001/jama.1994.03510310037035

ThompsonEA.1993.Sampling and Ascertainment in Genetic Epidemiology: A Tutorial Review. Department of Statistics University of Washington.

10.1016/0092-8674(91)90397-H

10.1002/(SICI)1096-8628(19990402)83:4<248::AID-AJMG3>3.0.CO;2-1

10.1073/pnas.94.10.5395

10.1016/S0140-6736(95)90979-6

10.1136/jmg.40.5.377

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Wiley

Tập 10 Số 1

31-41

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