Short-term memory deficits in carrier females with KDM5C mutations

Genetic Counseling

Volumn 23, Issue 1, 2012, Pages 31-40

  Simensen, Richard J ^a   Rogers, R C ^a   Collins, J S ^a   Abidi, F ^a   Schwartz, C E ^a   Stevenson, R E ^a  

^a GREENWOOD GENETIC CENTER   (United States)

Author keywords

Immediate recall; Verbal dysfunction; Visuo spatial dysfunction; X linked intellectual and developmental disability

Indexed keywords

HISTONE DEMETHYLASE;

ADOLESCENT; ADULT; AMNESIA; ARTICLE; CHILD; CLINICAL ARTICLE; COGNITION; CONTROLLED STUDY; DEMETHYLATION; DEVELOPMENTAL DISORDER; FEMALE; GENE; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; KDM5C GENE; MALE; PRESCHOOL CHILD; SCHOOL CHILD; SHORT TERM MEMORY; STANFORD-BINET INTELLIGENCE SCALE; TRANSCRIPTION REGULATION; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; AGED; FEMALE; HETEROZYGOTE; HUMANS; INTELLIGENCE; MALE; MEMORY DISORDERS; MEMORY, SHORT-TERM; MIDDLE AGED; MUTATION; NEUROPSYCHOLOGICAL TESTS; OXIDOREDUCTASES, N-DEMETHYLATING;

EID: 84860278801     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. ABIDI F.E., HOLLOWAY L., MOORE C.A., WEAVER D.D., SIMENSEN R.J., STEVENSON R.E., ROGERS R.C., SCHWARTZ C.E.: Mutations in JARIDIC as associated with X-Linked mental retardation, short stature and hyperreflexia. J. Med. Genet., 2008, 45, 87-793.
2. BROSCO J.P., MATTINGLY M., SANDERS L.M.: Impact of specific meIdical interventions on reducing the prevalence of mental retardation. Arch. Pediatr. Adolesc. Med., 2006, 160, 302-309.
3. CHELLY J., KHELFAOUI M., FRANCIS F., CHERIF B., BIENVENU T.: Genetics and pathophysiology of mental retardation. Eur. J. Hum. Genet., 2006, 14, 701-713.
4. CHIARUZZI P., SCHWARTZ C.E., GEOZ J., NERI G.: XLMR genes: Update 2007. Eur. J. Hum. Genet., 2008, 16, 422-434.
5. Greenwood Genetic Center: XLID Update. http://www.ggc.org/xlmr.htm
6. IWASE S., LAN F., BAYLISS P., DE LA TORRE-UBEITA L., HUARTE M., QI H.H., WHETSTINE J.R, BONNI A., ROBERTS T.M., SHI Y.: The X-linked mental retardation gene SMCX/JARIDIC defines a family of Histone H3 Lysine 4 demethylases. Cell, 2007, 128, 1077-1088.
7. JENSEN L.R., BARTENSCHLAGER H., RUJIRABANJERD S., TZSCHACH A., NUMANN A., JANECJE A.R., SPORLE R., STRICKER S., RAYNAUD M., NELSON J., HACKETT A., FRYNS J-P., CHELLY J., DE BROUWER A.P.M., HAMEL B., GECZ J., ROPERS H-H., KUSS A.W.: A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. PathoGenetics, 2010, 3, 2.
8. JENSEN L.R., AMENDE M., GUROK U., MOSER B., GIMMEL V., TZSCHACH A., JANECKE A.R., TARIVERDIAN G., CHELLY J., FRYNS J.-P., VAN ESCH H., KLEEFSTRA T., HAMEL B., MORIANE C., GECZ J., YURNER G., REINHARDT R., KALSCHEUER V.M., ROPERS H-H., LENZER S.: Mutations in the JARIDIC gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am. J. Hum. Genet., 2005, 76, 227-236.
9. KLEEFSTRA T., HAMEL B.C.: X-linked mental retardation: further lumping, splitting and emerging phenotypes. Clin. Genet., 2005, 67, 451-467.
10. LEE J.H., LARSON S.A., LARKIN K.C., ANDERSON L., LEE N.K., ANDERSON D.: Prevalence of mental retardation and developmental disabilities: Estimates from the 1994/1995 national health interview survey disability supplements. Am. J. Ment. Retard., 2001, 106, 231-252.
11. MAAS N.M.C., VAN BUGGENHOUT G., HANNES F., THIENPONT B., SANLAVILLE D., KOK K., MIDRO A., ANDRIEUX J., ANDERLID B.M., SCHOUMANS J., HORDIJK R., DEVRIENDT K., FRYNS J.P., VERMEESCH J.R.: Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn Syndrome using high resolution array comparative genome hybridisation (CGH). J. Med. Genet. 2008, 45, 71-80.
12. OWG K.R., WOODWARD E.R., KILLICK P., LIM C., MACDONALD F., MAHER E.R.: Genotype-phenotype correlations in von Hippel-Lindau disease. Hum. Mutat., 2006, 28, 143-149.
13. RAYMOND F.L.: X linked mental retardation: a clinical guide. J. Med. Genet., 2006, 43, 193-200.
14. ROPERS H-H., HAMEL B.C.: X-linked mental retardation. Nat. Rev. Genet., 2005, 6, 46-57.
15. SANTOS C., RODRIGUEZ-REVENGA L., MADRIGAL I., BADENAS C., PINEDA M., MILA M.: A novel mutation in JARIDIC gene associated with mental retardation. Eur. J. Hum. Genet., 2006, 14, 583-586.
16. SIMENSEN R.J., ABIDI F., COLLINS J.S., SCHWARTZ C.E., STEVENSON, R.E.: Cognitive functioning in Coffin-Lowry syndrome. Clin. Genet., 2002, 61, 299-304.
17. STEVENSON R.E., PROCOPIO-ALLEN A.M., SCHROER R.J., COLLINS J.S.: Recognizable genetic syndromes among individuals with mental retardation. Am. J. Med. Genet., 2003, 123A, 29-32.
18. STEVENSON R.E., SCHWARTZ C.E., SCHROER R.J.: X-Linked Mental Retardation. New York, Oxford University Press, 2000.
19. THORNDIKE R.L., HAGEN E.P., SATTLER J.M.: The Stanford-Binet Intelligence Scale: Fourth Edition. Chicago, Riverside Publishing Company, 1986.
20. TZOULAKI I., WHITE I.M., HANSON I.M. PAX-6mutations: genotype-phenotype correlations. BMC Genet., 2005, 6, 27.
21. TZSCHACH A., LENZNER S., MOSER B., REINHARDT, R., CHELLY J., FRYNS J-P., KLEEFSTRA T., RAYNAUD M., TURNER G., ROPERS H-H., KUSS A., JENSEN L.R.: Novel JARIDIC/SMCXD mutations in patients with X-linked mental retardation. [Mutations in brief #891] Hum. Mutat., 2006, 27, 389.
22. ZOLLINO M., DI STEFANO C., ZAMPINO G., MASTROIACOVO P., WRIGHT T.J., SORGE G., SELICORNI A., TENCONI R., ZAPPALÀ A., BATTAGLIA A., DI ROCCO M., PALKA G., PALLOTTA R., ALTHERR M.R., NERI G.: Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am. J. Med. Genet., 2000, 94, 254-261.