Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome

Molecular Genetics and Metabolism

Volumn 111, Issue 2, 2014, Pages 123-127

  Ahmed, Alia ^a   Whitley, Chester B ^a   Cooksley, Renee ^a   Rudser, Kyle ^c   Cagle, Stephanie ^b   Ali, Nadia ^b   Delaney, Kathleen ^a   Yund, Brianna ^a   Shapiro, Elsa ^a  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MINNESOTA   (United States)

Author keywords

Hurler Scheie syndrome; L238Q; Missense mutation; Mucopolysaccharidosis Type I; Nonsense mutation; L iduronidase

Indexed keywords

LEVO IDURONIDASE;

ADOLESCENT; ADULT; ARTICLE; ATTENTION; BRAIN DISEASE; CHILDHOOD; CLINICAL ARTICLE; CONTROLLED STUDY; DEPRESSION; DISEASE ASSOCIATION; EXOME; FEMALE; GENE DELETION; GENETIC ASSOCIATION; GENOTYPE; HUMAN; HYDROCEPHALUS; INTELLIGENCE QUOTIENT; LONGITUDINAL STUDY; MALE; MEDICAL HISTORY; MEMORY; MENTAL DISEASE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NEUROPSYCHOLOGICAL TEST; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; QUALITY OF LIFE; SCHEIE SYNDROME; SCORING SYSTEM; SPINAL CORD COMPRESSION; YOUNG ADULT;

HURLER-SCHEIE SYNDROME; L238Q; MISSENSE MUTATION; MUCOPOLYSACCHARIDOSIS TYPE I; NONSENSE MUTATION; Α-L-IDURONIDASE;

ADOLESCENT; ADULT; ALLELES; COGNITION; DEPRESSION; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; HUMANS; IDURONIDASE; MALE; MEMORY; MUCOPOLYSACCHARIDOSIS I; MUTATION; NEUROPSYCHOLOGICAL TESTS; SEVERITY OF ILLNESS INDEX; TIME FACTORS;

EID: 84893672647     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.11.014     Document Type: Article

References (26)

1. Pastores G.M., Arn P., Beck M., Clarke J.T.R., Guffon N., Kaplan P., Muenzer J., Norato D.Y.J., Shapiro E., Thomas J., Viskochil D., Wraith J.E. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol. Genet. Metab. 2007, 91:37-47.
2. Clarke L.A., Heppner J. Mucopolysaccharidosis type I. GeneReviews™ [Internet] 2002, Oct 31 (Updated 2011 Jul 21), University of Washington, Seattle, Seattle (WA), (1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1162/). R.A. Pagon, M.P. Adam, T.D. Bird (Eds.).
3. Yogalingam G., Guo X.H., Muller V.J., Brooks D.A., Clements P.R., Kakkis E.D., Hopwood J.J. Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. Hum. Mutat. 2004, 24:199-207.
4. Chandar S.S., Mahalingam K. Mucopolysaccharidosis type I: homology modeling and docking analysis of the lysosomal enzyme, human α-L-iduronidase. Afr. J. Pharm. Pharmacol. 2012, 6(27):2027-2038.
5. Saito S., Ohno K., Maita N., Sakuraba H. Structural and clinical implications of amino acid substitutions in α-L-iduronidase: Insight into the basis of mucopolysaccharidosis type I. Mol. Genet. Metab. 2013, 10.1016/j.ymgme.2013.10.005.
6. Ahmed A., Cooksley R., Rudser K., Whitley C., Shapiro E. Relationship of genotype, treatment and age with medical phenotype in mucopolysaccharidosis type I. Mol. Genet. Metab. 2013, 108:S17-S18.
7. Chen H.Y., Dinmore A., Hildebrand D., Ledbetter M., McDonald J., Pike J., Wolley L. WASI. Wechsler Abbreviated Scale of Intelligence Manual 1999, The Psychological Corporation, San Antonio, TX.
8. Greenberg L.M., Kindschi C.L., Dupuy T.R., Hughes S.J. Test of Variables of Attention Continuous Performance Test 2007, The TOVA Company, Los Alamitos, CA.
9. Smerbeck A.M., Parrish J., Yeh E.A., Hoogs M., Krupp L.B., Weinstock-Guttman B., Benedict R.H. Regression-based pediatric norms for the brief visuospatial memory test -revised and the symbol digit modalities test. Clin. Neuropsychol. 2011, 25(3):402-412.
10. Cohen M. Children's Memory Scale (CMS) 1997, The Psychological Corporation, San Antonio TX.
11. Wechsler D. WMS-III: Wechsler Memory Scale Administration and Scoring Manual 1997, Psychological Corporation, San Antonio, TX.
12. Benton A.L., Hamsher K., Varney N., Spreen O. Contributions to Neuropsychological Assessment 1983, Oxford University Press, New York.
13. Sparrow S.S., Cicchetti D.V., Balla D.A. Vineland Adaptive Behavior Scales 2005, Psychological Corporation, San Antonio, TX. 2nd ed.
14. Reynolds C.R., Kamphaus R.W. Behavior Assessment System for Children 2004, American Guidance Service, Circle Pines, MN. 2nd ed.
15. Core Team R. R: A Language and Environment for Statistical Computing 2012, R Foundation for Statistical Computing, Vienna, Austria, (URL http://www.R-project.org/).
16. Neufeld E.F., Muenzer J. The Mucopolysaccharidosis, the Metabolic and Molecular Basis of Inherited Disease 1989, McGraw-Hill, New York. 6th ed.
17. Hopwood J.J., Morris C.P. The mucopolysaccharidosis: diagnosis, molecular genetics and treatment. Mol. Biol. Med. 1990, 7(5):381-404.
18. Terlato N.J., PharmD G.F.Cox Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. Genet. Med. 2003, 5:286-294. MD, PhD.
19. Beesley C.E., Meaney C.A., Greenland G., Adams V., Vellodi A., Young E.P., Winchester B.G. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum. Genet. 2001, 109:503-511.
20. Scott H.S., Litjens T., Hopwood J.J., Morris C.P. A common mutation for type I mucopolysaccharidosis associated with a severe Hurler syndrome phenotype. Hum. Genet. 1992, 109:103-108.
21. Scott H.S., Bunge S., Gal A., L.A., Clarke, Morris C.P., Hopwood J.J. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum. Mutat. 1995, 6:288-302.
22. Teng Y.N., Wang T.R., Hwu W.L., Lin S.P., Lee-Chen G. Identification and characterization of -3c-g acceptor splice site mutation in human α-L-iduronidase associated with mucopolysaccharidosis type IH/S. Clin. Genet. 2000, 57:131-136.
23. Clarke L.A., Nelson P.V., Warrington C.L., Morris C.P., Hopwood J.J., Scott H.S. Mutation analysis of 19 North American mucopolysaccharidosis type 1 patients: identification of two additional frequent mutations. Hum. Mutat. 1994, 3:275-282.
24. Scott H.S., Litjens T., Nelson P.V., Thompson P.R., Brooks D.A., Hopwood J.J., Morris C.P. Identification of mutations in the α-L-iduronidase Gene (IDUA) that cause Hurler and Scheie syndromes. Am. J. Hum. Genet. 1993, 53:973-986.
25. Bach G., Moskowitz S.M., Tieu P.T., Matynia A., Neufeld E.F. Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutation of the IDUA gene in a small geographic area. Am. J. Hum. Genet. 1993, 53:330-338.
26. Bie H., Yin J., He X., Kermode A.R., Goddard-Borger E.D., Withers S.G., James M.N.G. Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase. Nat. Chem. Biol. 2013, 9:739-745.