Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

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Two new Rett syndrome families and review of the literature : expanding the knowledge of MECP2 frameshift mutations. / Ravn, Kirstine; Roende, Gitte; Duno, Morten; Fuglsang, Kathrine; Eiklid, Kristin L; Tümer, Zeynep; Nielsen, Jytte B; Skjeldal, Ola H.

I: Orphanet Journal of Rare Diseases, Bind 6, 08.2011, s. 58.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Ravn, K, Roende, G, Duno, M, Fuglsang, K, Eiklid, KL, Tümer, Z, Nielsen, JB & Skjeldal, OH 2011, 'Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations', Orphanet Journal of Rare Diseases, bind 6, s. 58. https://doi.org/10.1186/1750-1172-6-58

APA

Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K. L., Tümer, Z., Nielsen, J. B., & Skjeldal, O. H. (2011). Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. Orphanet Journal of Rare Diseases, 6, 58. https://doi.org/10.1186/1750-1172-6-58

Vancouver

Ravn K, Roende G, Duno M, Fuglsang K, Eiklid KL, Tümer Z o.a. Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. Orphanet Journal of Rare Diseases. 2011 aug.;6:58. https://doi.org/10.1186/1750-1172-6-58

Author

Ravn, Kirstine ; Roende, Gitte ; Duno, Morten ; Fuglsang, Kathrine ; Eiklid, Kristin L ; Tümer, Zeynep ; Nielsen, Jytte B ; Skjeldal, Ola H. / Two new Rett syndrome families and review of the literature : expanding the knowledge of MECP2 frameshift mutations. I: Orphanet Journal of Rare Diseases. 2011 ; Bind 6. s. 58.

Bibtex

@article{630e7d794626494fbaab7153f4015cbd,
title = "Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations",
abstract = "Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X chromosome. About 10% of the RTT cases have a C-terminal frameshift deletion in MECP2. Only few RTT families with a segregating MECP2 mutation, which affects female carriers with a phenotype of mental retardation or RTT, have been reported in the literature. In this study we describe two new RTT families with three and four individuals, respectively, and review the literature comparing the type of mutations and phenotypes observed in RTT families with those observed in sporadic cases. Based on these observations we also investigated origin of mutation segregation to further improve genetic counselling.",
keywords = "Adult, Chromosomes, Human, X, Family, Female, Frameshift Mutation, Genetic Predisposition to Disease, Genotype, Humans, Infant, Male, Methyl-CpG-Binding Protein 2, Rett Syndrome, X Chromosome Inactivation",
author = "Kirstine Ravn and Gitte Roende and Morten Duno and Kathrine Fuglsang and Eiklid, {Kristin L} and Zeynep T{\"u}mer and Nielsen, {Jytte B} and Skjeldal, {Ola H}",
year = "2011",
month = aug,
doi = "10.1186/1750-1172-6-58",
language = "English",
volume = "6",
pages = "58",
journal = "Orphanet Journal of Rare Diseases",
issn = "1750-1172",
publisher = "BioMed Central",

}

RIS

TY - JOUR

T1 - Two new Rett syndrome families and review of the literature

T2 - expanding the knowledge of MECP2 frameshift mutations

AU - Ravn, Kirstine

AU - Roende, Gitte

AU - Duno, Morten

AU - Fuglsang, Kathrine

AU - Eiklid, Kristin L

AU - Tümer, Zeynep

AU - Nielsen, Jytte B

AU - Skjeldal, Ola H

PY - 2011/8

Y1 - 2011/8

N2 - Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X chromosome. About 10% of the RTT cases have a C-terminal frameshift deletion in MECP2. Only few RTT families with a segregating MECP2 mutation, which affects female carriers with a phenotype of mental retardation or RTT, have been reported in the literature. In this study we describe two new RTT families with three and four individuals, respectively, and review the literature comparing the type of mutations and phenotypes observed in RTT families with those observed in sporadic cases. Based on these observations we also investigated origin of mutation segregation to further improve genetic counselling.

AB - Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X chromosome. About 10% of the RTT cases have a C-terminal frameshift deletion in MECP2. Only few RTT families with a segregating MECP2 mutation, which affects female carriers with a phenotype of mental retardation or RTT, have been reported in the literature. In this study we describe two new RTT families with three and four individuals, respectively, and review the literature comparing the type of mutations and phenotypes observed in RTT families with those observed in sporadic cases. Based on these observations we also investigated origin of mutation segregation to further improve genetic counselling.

KW - Adult

KW - Chromosomes, Human, X

KW - Family

KW - Female

KW - Frameshift Mutation

KW - Genetic Predisposition to Disease

KW - Genotype

KW - Humans

KW - Infant

KW - Male

KW - Methyl-CpG-Binding Protein 2

KW - Rett Syndrome

KW - X Chromosome Inactivation

U2 - 10.1186/1750-1172-6-58

DO - 10.1186/1750-1172-6-58

M3 - Journal article

C2 - 21878110

VL - 6

SP - 58

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

ER -

ID: 38410705