Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome

Pediatrics

Volumn 118, Issue 4, 2006, Pages

  Bittel, Douglas C ^a   Kibiryeva, Nataliya ^a   Butler, Merlin G ^a,b  

^a UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

^b CHILDREN S MERCY HOSPITAL   (United States)

Author keywords

Academic and behavioral assessment; Gene expression; Genotype phenotype correlation; Prader Willi syndrome; PWS; Type I and II deletions

Indexed keywords

MESSENGER RNA; CYFIP1 PROTEIN, HUMAN; MEMBRANE PROTEIN; MICROTUBULE ASSOCIATED PROTEIN; NIPA1 PROTEIN, HUMAN; NIPA2 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUBGCP5 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BEHAVIOR DISORDER; CHROMOSOME 15Q; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; CLINICAL FEATURE; CORRELATION COEFFICIENT; CYFIP1 GENE; DISEASE CLASSIFICATION; DISOMY; FEMALE; GCP5 GENE; GENE; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE INTERACTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LEARNING DISORDER; LYMPHOBLASTOID CELL; MALE; NIPA1 GENE; NIPA2 GENE; OBSESSIVE COMPULSIVE DISORDER; PRADER WILLI SYNDROME; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; VISUOMOTOR COORDINATION; CHROMOSOME 15; COGNITIVE DEFECT; GENE EXPRESSION PROFILING; GENETICS; METABOLISM; PSYCHOLOGICAL ASPECT;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; CHROMOSOMES, HUMAN, PAIR 15; COGNITION DISORDERS; FEMALE; GENE EXPRESSION PROFILING; HUMANS; MALE; MEMBRANE PROTEINS; MICROTUBULE-ASSOCIATED PROTEINS; OBSESSIVE-COMPULSIVE DISORDER; PRADER-WILLI SYNDROME; RNA, MESSENGER;

EID: 33750128290     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2006-0424     Document Type: Article

References (29)

1. Butler MG, Thompson T. Prader-Willi syndrome: clinical and genetic findings. Endocrinologist. 2000;10:35-165
2. Cassidy SB, Forsythe M, Heeger S, et al. Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet. 1997;68:433-440
3. Bittel D, Butler MG. Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med. 2005;7(14):1-20
4. Nicholls RD, Knepper JL. Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet. 2001;2:153-175
5. Chai JH, Locke DP, Greally JM, et al. Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. Am J Hum Genet. 2003;73:898-925
6. Pujana MA, Nadal M, Gratacos M, et al. Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26. Genome Res. 2001;11:98-111
7. Butler MG. Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome. Am J Hum Genet. 1989;45:140-146
8. Butler MG. Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet. 1990;35:319-332
9. Roof E, Stone W, MacLean W, Feurer ID, Thompson T, Butler MG. Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes. J Intellect Disabil Res. 2000;44:25-30
10. Cassidy SB. Prader-Willi syndrome. J Med Genet. 1997;34:917-923
11. Dykens EM, Cassidy SB, King BH. Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy. Am J Ment Retard. 1999;104:67-77
12. Gunay-Aygun M, Heeger S, Schwartz S, Cassidy SB. Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15. Am J Med Genet. 1997;71:106-110
13. Fox R, Yang GS, Feurer ID, Butler MG, Thompson T. Kinetic form discrimination in Prader-Willi syndrome. J Intellect Disabil Res. 2001;45:317-325
14. Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T. Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics. 2004;113:565-573
15. Milner KM, Craig EE, Thompson RJ, et al. Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype. J Child Psychol Psychiatry. 2005;46:1089-1096
16. Varela MC, Kok F, Setian N, Kim CA, Koiffmann CP. Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients. Clin Genet. 2005;67:47-52
17. Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet. 2003;73:967-971
18. Goodman WK, Price LH, Rasmussen SA, et al. The Yale-Brown Obsessive Compulsive Scale. II. Validity. Arch Gen Psychiatry. 1989;46:1012-1016
19. Goodman WK, Price LH, Rasmussen SA, et al. The Yale-Brown Obsessive Compulsive Scale. I. Development, use, and reliability. Arch Gen Psychiatry. 1989;46:1006-1011
20. Stein DJ, Keating J, Zar HJ, Hollander E. A survey of the phenomenology and pharmacotherapy of compulsive and impulsive-aggressive symptoms in Prader-Willi syndrome. J Neuropsychiatry Clin Neurosci. 1994;6:23-29
21. Dykens EM, Leckman JF, Cassidy SB. Obsessions and compulsions in Prader-Willi syndrome. J Child Psychol Psychiatry. 1996;37:995-1002
22. Gedye A. Issues involved in recognizing obsessive-compulsive disorder in developmentally disabled clients. Semin Clin Neuropsychiatry. 1996;1:142-147
23. Reiss S. Test Manual for the Reiss Screen for Maladaptive Behavior. Orlando Park, IL; International Diagnostic Systems; 1988
24. Bruininks RH, Woodcock RW, Weatherman RF, Hill BK. Scales of Independent Behavior (SIB). Allen, TX: DCM Teaching Resources; 1984
25. Wechsler D. Wechsler Adult Intelligence Scale-Revised. New York, NY: The Psychological Corporation; 1981
26. Wechsler D. Wechsler Intelligence Scale for Children-III. New York, NY: The Psychological Corporation; 1991
27. Beery KE, Buktenica NA. Developmental Test of Visual-Motor Integration. 3rd revision. Cleveland, OH: Modern Curriculum Press; 1997
28. Woodcock RW, Johnson MB. Woodcock-Johnson Tests of Achievment-Revised. Allen, TX: DLM Teaching Resources; 1990
29. Schenck A, Bardoni B, Moro A, Bagni C, Mandel JL. A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. Proc Natl Acad Sci U S A. 2001;98:8844-8849