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MUTASYONDAN KLİNİĞE RETT SENDROMU

RETT SYNDROME: FROM MUTATION TO THE CLINICAL PICTURE

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Abstract (2. Language): 
Rett syndrome is a progressive, neurogenetic disorder. The syndrome, which has an X-dominant inheritance, affects girls predominantly. After Down syndrome, Rett syndrome is the second leading cause of mental retardation seen in girls. After a normal development for 6-18 months, the disease appears with symptoms such as acquired microcephaly, psychomotor retardation, unpurposeful hand movements. Because of the autistic symptoms commonly seen in the disorder, more attention for including Rett syndrome in the differential diagnosis of a number of conditions is being paid. The aim of this review is to evaluate the relationship between etiology and clinical features of the syndrome with respect to the recent advances in its molecular basis
Abstract (Original Language): 
ÖZET Rett sendromu ilerleyici seyir gösteren, genetik temeli olan nörolojik bir hastal›kt›r. X’e ba¤l› dominant kal› t›m modeline sahip olan hastal›k ço¤unlukla k›z çocuklarda ortaya ç›kmaktad›r. K›zlarda gözlenen mental retardasyon nedenleri aras›nda Down sendromundan sonra ikinci s›rada geldi¤i kabul edilmektedir. Genellikle do¤um ve sonras›ndaki 6-18. ayl›k süreçte normal geliflim gösteren çocuklarda hastal›k zamanla geliflen mikrosefali, psikomotor gerilik ve amaçs›z el hareketleriyle kendini gösterir. Sendromda otistik bulgulara s›kça rastlan›lmas› bu sendromu birçok hastal›¤›n ay›r›c› tan›s›nda daha çok gündeme getirmeye bafllam› flt›r. Bu derleme Rett sendromunun moleküler temelindeki son geliflmelerden yola ç›karak etyolojiyle klinik tablo aras›ndaki iliflkiyi de¤erlendirmek amac›yla ele al›nm›flt›r.
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REFERENCES

References: 

1. Aber KM, Nori P, MacDonald SM, Bibat G, Jarrar MH, Kaufmann
WE. Methyl-CpG-binding protein 2 is localized in
the postsynaptic compartment: an immunochemical study of
subcellular fractions. Neurosci 2003;116:77-80.
2. Amir RE, Sutton VR, Van den Veyver IB. Newborn screening
and prenatal diagnosis for Rett syndrome: implications
for therapy. J Child Neurol 2005;20:779-783
3. Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I,
Hayek G, Rocchi R, Zappella M, Renieri A. Real time quantitative
PCR as a routine method for screening large rearrangements
in Rett syndrome: Report of one case of MECP2
deletion and one case of MECP2 duplication. Human Mut
2004; 24:172-177.
4. Bienvenu T, Chelly J. Molecular genetics of Rett syndrome:
when DNA methylation goes unrecognized. Nat Rev Genet
2006;7:415-426.
5. Buyse IM, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB.
Diagnostic testing for Rett syndrome by DHPLC and direct
sequencing analysis of the MECP2 gene:identification of several
novel mutations and polymorphisms. Am J Hum Genet
2000; 67:1428-1436.
6. Charman T, Neilson TC, Mash V, Archer H, Gardiner MT,
Knudsen GP, McDonnell A, Perry J, Whatley SD, Bunyan
DJ, Ravn K, Mount RH, Hastings RP, Hulten M, Orstavik
KH, Reilly S, Cass H, Clarke A, Kerr AM, Bailey ME. Dimensional
phenotypic analysis and functional categorisation
of mutations reveal novel genotype-phenotype associations
in Rett syndrome. Eur J Hum Genet 2005; 13:1121-1130.
7. De Bona C, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini
M, Cusano R, Loffredo P, Longo I, Renieri A. Preserved
speech variant is allelic of classic Rett syndrome. Eur J Hum
Genet 2000; 8:325-330.
8. Egger J, Hofacker N, Schiel W, Holthausen H. Magnesium
for hyperventilation in Rett`s syndrome. Lancet
1992;340:621-622.
9. Ellaway C, Williams K, Leonard H, Higgins G, Wilcken B,
Christodoulou J. Rett syndrome:randomized controlled trial
of L-carnitine. J Child Neurol 1999; 14:162-167.
10. Erlandson A, Samuelson L, Hagberg B, Kyllerman M, Vujic
M, Wahlstrom J. Multiplex ligation-dependent probe
amplification (MLPA) detects large deletions in the MECP2
Rett sendromu
‹stanbul T›p Fakültesi Dergisi Cilt / Volume: 69 • Say› / Number: 4 • Y›l/Year: 2006
- 124 -
gene of Swedish Rett syndrome patients. Genet Test
2003;7:329-332.
11. Gill, H, Cheadle JP, Maynard J, Fleming N, Whatley
S,Cranston T, Thompson EM, Leonard H, Davis M, Christodoulou
J, Skieldal O, Hanefeld F, Kerr A, Tandy A, Ravine
D, Clarke A. Mutation analysis in the MECP2 gene and genetic
counselling for Rett syndrome. J Med Genet
2003;40:380-384.
12. Hagberg B, Hanefeld F, Percy A, Skjeldal O. An update on
clinically applicable diagnostic criteria in Rett syndrome.
Comments to Rett syndrome Clinical Criteria Consensus
Panel Satellite to European Paediatric Neurology Society
Meeting, Baden Baden, Germany, 11 September 2001. Eur J
Peadiatr Neurol 2002;6:293-297.
13. Heilstedt HA, Shahbazian MD, Lee B. Infantile hypotonia as
a presentation of Rett syndrome. Am J Med Genet
2002;111:238-242.
14. Kriaucionis S, Bird A.The major form of MECP2 has a novel
N-terminus generated by alternative splicing. Nucl Acid
Res 2004; 32:1818-1823.
15. Laccone F, Junemann I, Whatley S, Morgan R, Butler R,
Huppke P, Ravine D. Large deletions of the MECP2 gene detected
by gene dosage analysis in patients with Rett syndrome.
Hum Mut 2004;23:234-244. Erratum appears in Hum
Mut 2004; 23:395.
16. Leonard H, Bower C, English D. The prevalence and incidence
of Rett syndrome in Australia. Eur Child Adolesc
Psych 1997; 1:8-10.
17. Makedonski K, Abuhatzira L, Kaufman Y, Razin A, Shemer
Y. MECP2 defiency in Rett syndrome causes epigenetic
aberrations at the PWS/AS imprinting center that affects
UBE3A expression. Hum Mol Genet 2005;14:1049-1058.
18. Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli
R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek
G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli
V, Renieri A, Kilstrup-Nielsen C, Landsberger N.
CDKL5 belongs to the same molecular pathway of MECP2
and it is responsible for the early-onset seizure variant of
Rett syndrome. Hum Mol Genet 2005; 15:14:1935-1946.
19. McArthur AJ, Budden SS. Sleep dysfunction in Rett syndrome:
a trial of exogenous melatonin treatment. Dev Med
Child Neurol 1998; 40:186-192.
20. NomuraY, Segawa M. Natural history of Rett syndrome. J
Child Neurol 2005; 764-768.
21. Online Mendelian Inheritance in Man, OMIM (TM). Johns
Hopkins University, Baltimore, MD. MIM Number: 176920:
Proteus syndrome. http://www. ncbi.nlm.nih.gov.
22. Ravn K, Nielsen JB, Schwartz M. Mutations found within
exon 1 of MECP2 in Danish patients with Rett syndrome.
(Letter) Clin Genet 2005;67:532-533.
23. Samaco RC, Hogart A, LaSalle JM. Epigenetic overlap in
autism-spectrum neurodevelopmental disorders:MECP2 deficiency
causes reduced expression of UBE3A and
GABRB3.Hum Mol Genet 2005;14:483-492.
24. Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I,
Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri
A. CDKL5/STK9 is mutated in Rett syndrome variant
with infantile spasms. J Med Genet 2005;42:103-107.
25. Schanen C, Houwink EJ, Darrani N, Lane J, Everett R, Feng
A, Cantor RM, Percy A. Phenotypic manifestations of
MECP2 mutations in classical and atypical Rett syndrome.
Am J Med Genet 2004; 126:129-140.
26. Schwartzman JS, Bernardino A, Nishimura A, Gomes RR,
Zatz M. Rett syndrome in a boy with a 47,XXY karyotype
confirmed by a rare mutation in the MECP2 gene. Neuropaediatr
2001;32:162-164.
27. Smeets E, Terhal P, Casaer P, Peters A, Midro A, Schollen E,
van Roozendaal K, Moog U, Matthiis G, Herbergs J, Smeets
H, Curfs L, Schrander-Stumpel C, Fryns JP. Rett syndrome
in females with CTS hot spot deletions: a disorder profile.
Am J Med Genet 2005;132: 117-120.
28. Stancheva I, Collins AL, Van den Veyver IB, Zoghbi H, Meehan
RR. A mutant form of MECP2 protein associated with
human Rett syndrome cannot be displaced from methylated
DNA by notch in Xenopous embryos. Mol Cell
2003;12:425-435.
29. Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser
B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gecz
J, Ropers HH, Kalscheuer VM. Mutations in the X-linked
cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated
with severe neurodevelopmental retardation. Am J
Hum Genet 2004,75:1149-1154.
30. Topcu M, Akyerli C, Sayi A, Toruner GA, Kocoglu SR, Cimbis
M, Özcelik T. Somatic mosaicism for a MECP2 mutation
associated with classic Rett syndrome in a boy. Eur J
Hum Genet 2002; 10:77-81.
31. Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M,
Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz
J, Moraine C, Marynen P, Fryns JP, Froyen G. Duplication
of the MECP2 region is a frequent cause of severe mental retardation
and progressive neurological symptoms in males.
Am J Hum Genet 2005;77:442-453.
32. Weaving LS, Christodoulou J, Williamson SL, Friend KL,
McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam
PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard
H, Gecz J. Mutations of CDKL5 cause a severe neurodevelopmental
disorder with infantile spasms and mental retardation.
Am J Hum Genet 2004; 75: 1079-1093.
33. Witt-Engerstrom I. Age-related occurrence of signs and
symptoms in the Rett syndrome. Brain Dev 1992;14:11-20
34. Young JI, Zoghbi HY. X-chromosome inactivation patterns
are unbalanced and affect the phenotypic outcome in a mouse
model of Rett syndrome. Am J Hum Genet 2004;74:511-
550.
35. Zlatanova J. MECP2:the chromatin connection and beyond.
Biochem Cell Biol 2005; 83:251-262
36. Zoghbi HY. Rett syndrome. GeneReviews, University of
Washington, Seattle, 2004; http://www. genetests.com.

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