Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene-Reference-Cited by-同舟云学术

Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene

Published:2008-09-20 Issue:3-4 Volume:2 Page:77-81
ISSN:1871-7934
Container-title:Genomic Medicine
language:en
Short-container-title:HUGO J

Author:

Rosser Lyndon G.,McKee Shane,Millar David S.,Archer Hayley,Hughes James,Butler Rachel,Chuzhanova Nadia,Cooper David N.,Lazarou Lazarus P.

Abstract

Abstract The unique case of two sisters with symptoms of RTT and two quite distinct, novel, and apparently de novo microdeletions of the MECP2 gene is described. One sister possessed an 18 base-pair (bp) deletion (c.1155_1172del18) within the deletion hotspot region of exon 4, whereas the other sister exhibited a 43 bp deletion at a different location in the same exon (c.1448_1461del14+29). Although these lesions occurred on the same paternally-derived X chromosome, this is probably due to chance co-occurrence owing to the relatively high mutation rate of the MECP2 gene rather than to a constitutional mutator phenotype.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s11568-008-9026-9.pdf

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