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

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78 Citations (Scopus)

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.

Original language	English
Pages (from-to)	77-81
Number of pages	5
Journal	European Journal of Human Genetics
Volume	10
Issue number	1
DOIs	https://doi.org/10.1038/sj.ejhg.5200745
Publication status	Published - 2002
Externally published	Yes

Funding

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.

Funders	Funder number
TÜBIÇTAK
Bilkent Üniversitesi

Keywords

MECP2
Rett syndrome
Somatic mosaicism

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10.1038/sj.ejhg.5200745

Cite this

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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.",

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AU - Topçu, Meral

AU - Akyerli, Cemaliye

AU - Sayi, Ayça

AU - Törüner, Gökçe A.

AU - Koçoğlu, Süha R.

AU - Cimbiş, Mine

AU - özçelik, Tayfun

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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.

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

Abstract

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Keywords

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