Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

Meral Topçu; Cemaliye Akyerli; Ayça Sayi; Gökçe A. Törüner; Süha R. Koçoğlu; Mine Cimbiş; Tayfun özçelik

doi:10.1038/sj.ejhg.5200745

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

Meral Topçu
, Cemaliye Akyerli
, Ayça Sayi
, Gökçe A. Törüner
, Süha R. Koçoğlu
, Mine Cimbiş
, Tayfun özçelik

Araştırma sonucu: Dergiye katkı › Makale › bilirkişi

80 Atıf (Scopus)

Özet

Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal X-chromosome, and also the early postnatal lethal effect of the disease causing mutations in hemizygous boys. We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. Chromosome analysis showed normal karyotype. These results indicate that a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism.

Orijinal dil	İngilizce
Sayfa (başlangıç-bitiş)	77-81
Sayfa sayısı	5
Dergi	European Journal of Human Genetics
Hacim	10
Basın numarası	1
DOI'lar	https://doi.org/10.1038/sj.ejhg.5200745
Yayın durumu	Yayınlandı - 2002
Harici olarak yayınlandı	Evet

Finansman

We would like to express our gratitude to the family for their help with this project. We thank Dr Uta Francke for critical reading of the manuscript, Drs Ergül TuncËbilek and Dilek AktasË for performing the cytogenetic analysis, Dr Göknur HalilogÆlu for help in obtaining patient samples, and Emre Sayan, Tolga CË agÆatay, Tülay Arayõcõ for dosage analysis experiments and DNA sequencing. This work was supported by Bilkent University, and TÜBIÇTAK.

Finansörler
TÜBIÇTAK
Bilkent Üniversitesi

Belgeye Erişim

10.1038/sj.ejhg.5200745

Diğer Dosyalar ve Linkler

Link to publication in Scopus

Alıntı Yap

@article{6d1b50726a304c88ba70aef13416e8ec,

title = "Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy",

abstract = "Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal X-chromosome, and also the early postnatal lethal effect of the disease causing mutations in hemizygous boys. We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. Chromosome analysis showed normal karyotype. These results indicate that a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism.",

keywords = "MECP2, Rett syndrome, Somatic mosaicism",

author = "Meral Top{\c c}u and Cemaliye Akyerli and Ay{\c c}a Sayi and T{\"o}r{\"u}ner, \{G{\"o}k{\c c}e A.\} and Ko{\c c}oğlu, \{S{\"u}ha R.\} and Mine Cimbi{\c s} and Tayfun {\"o}z{\c c}elik",

year = "2002",

doi = "10.1038/sj.ejhg.5200745",

language = "English",

volume = "10",

pages = "77--81",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "1",

}

TY - JOUR

T1 - Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

AU - Topçu, Meral

AU - Akyerli, Cemaliye

AU - Sayi, Ayça

AU - Törüner, Gökçe A.

AU - Koçoğlu, Süha R.

AU - Cimbiş, Mine

AU - özçelik, Tayfun

PY - 2002

Y1 - 2002

N2 - Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal X-chromosome, and also the early postnatal lethal effect of the disease causing mutations in hemizygous boys. We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. Chromosome analysis showed normal karyotype. These results indicate that a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism.

AB - Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal X-chromosome, and also the early postnatal lethal effect of the disease causing mutations in hemizygous boys. We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. Chromosome analysis showed normal karyotype. These results indicate that a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism.

KW - MECP2

KW - Rett syndrome

KW - Somatic mosaicism

UR - https://www.scopus.com/pages/publications/85047697344

U2 - 10.1038/sj.ejhg.5200745

DO - 10.1038/sj.ejhg.5200745

M3 - Article

C2 - 11896459

AN - SCOPUS:85047697344

SN - 1018-4813

VL - 10

SP - 77

EP - 81

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 1

ER -

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

Özet

Finansman

Belgeye Erişim

Diğer Dosyalar ve Linkler

Parmak izi

Alıntı Yap