Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome

Human Mutation

Volumn 22, Issue 2, 2003, Pages 116-120

  Schollen, E ^a   Smeets, E ^a   Deflem, E ^a   Fryns, J P ^a   Matthijs, Gert ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Gross rearrangement; MECP2; Mental retardation, X linked; Mutation analysis; Rett syndrome; RS; RTT

Indexed keywords

ADULT; AMPLIFIED FRAGMENT LENGTH POLYMORPHISM; ARTICLE; CASE REPORT; DELETION MUTANT; DISEASE SEVERITY; EXON; FEMALE; GENE; GENE IDENTIFICATION; GENE REARRANGEMENT; GENETIC CODE; GENETIC SCREENING; HUMAN; HUMAN GENOME; MECP 2 GENE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETT SYNDROME; SOUTHERN BLOTTING; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; BLOTTING, SOUTHERN; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; DNA-BINDING PROTEINS; EXONS; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC SCREENING; HUMANS; MENTAL RETARDATION; METHYL-CPG-BINDING PROTEIN 2; MUTATION; POLYMERASE CHAIN REACTION; REPRESSOR PROTEINS; RETT SYNDROME;

EID: 0042905824     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10242     Document Type: Article

References (22)

1. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 1992. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239.
2. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23:185-188.
3. Bienvenu T, Souville I, Poirier K, Aquaviva C, Burglen L, Amiel J, Heron B, Kaminska A, Couvert P, Beldjord C, Chelly J. 2001. Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: consequences for the molecular diagnosis strategy. Hum Mutat 18:251-252.
4. Bourdon V, Philippe C, Labrune O, Amsallem D, Arnould C, Jonveaux P. 2001a. A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. Hum Genet 108:43-50.
5. Bourdon V, Philippe C, Grandemenge A, Reichwald K, Jonveaux P. 2001b. Deletion screening by fluorescence in situ hybridization in Rett syndrome patients. Ann Genet 44:191-194.
6. Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A. 2000. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet 9:1119-1129.
7. Chen RZ, Akbarian S, Tudor M, Jaenisch R. 2001. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 27:327-331.
8. Christodoulou J, Grimm A, Maher T, Bennetts B. 2003. RettBASE: the IRSA MECP2 variation database- a new mutation database in evolution. Hum Mutat 21:466-472.
9. Guy J, Hendrich B, Holmes M, Martin JE, Bird A. 2001. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 27:322-326.
10. Hagberg B, Aicardi J, Dias K, Ramos O. 1983. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 14:471-479.
11. Hagberg B, Goutieres F, Hanefeld F, Rett A, Wilson J. 1985. Rett syndrome: criteria for inclusion and exclusion. Brain Dev 7:372-373.
12. Kerr AM, Nomura Y, Armstrong D, Anvret M, Belichenko PV, Budden S, Cass H, Christodoulou J, Clarke A, Ellaway C, d'Esposito M, Francke U, Hulten M, Julu P, Leonard H, Naidu S, Schanen C, Webb T, Engerstrom IW, Yamashita Y, Segawa M. 2001. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev 23:208-211.
13. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. 1987. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509-517.
14. Laccone F, Zoll B, Huppke P, Hanefeld F, Pepinski W, Trappe R. 2002. MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution. J Med Genet 39:586-588.
15. Lebo RV, Ikuta T, Milunsky JM, Milunsky A. 2001. Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region. Clin Genet 59:406-417.
16. Mittenberger-Miltenyi G, Laccone F. 2003. Mutations and polymorphisms in the human methyl CpG-binding protein, MECP2. Hum Mutat 22:107-115.
17. Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drusedau M, Hogervorst FB, Hageman S, Arts PJ, Ligtenberg MJ, Meijers-Heijboer H, Klijn JG, Vasen HF, Cornelisse CJ, van't Veer LJ, Bakker E, van Ommen GJ, Devilee P. 1997. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 17:341-345.
18. Sambrook J, Fritsch EF, Maniatis T. 1989. Molecular cloning: a laboratory Manual, 2nd ed. Cold Spring Harbor Laboratory Press: Cold Spring Harbor, NY.
19. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. 2002. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57.
20. Shahbazian MD, Zoghbi HY. 2002. Rett Syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet 71:1259-1272.
21. Smeets E, Schollen E, Moog U, Schoemaekers S, Matthijs G, Herbergs J, Smeets H, Curfs L, Schrander-Stumpel C, Fryns JP. 2003. Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. Am J Med Genet, accepted.
22. Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A. 2002. MECP2 mutations in Israel: implications for molecular analysis, genetic counselling, and prenatal diagnosis in Rett syndrome. Hum Mutat 20:323-324.