A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.

doi:10.1111/j.1651-2227.2012.02807.x

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Article

A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.

Acta paediatrica (Oslo, Norway : 1992) - 1 Nov 2012

Ostergaard Elsebet, Joensen Frodi, Sundberg Karin, Duno Morten, Hansen Flemming J, Batbayli Mustafa, Sørensen Nicolina, Born Alfred Peter

Abstract excerpt

AIM: The aim of the study was to identify the genetic background for Aicardi-Goutieres syndrome (AGS) in the Faroe Islands. METHODS: Four patients with AGS were identified. The patients had a variable phenotype, from a severe prenatal form with intrauterine foetal death to a milder phenotype, albeit still with an early onset, within the first 2-3 months. RESULTS: A genome-wide search for homozygosity revealed one...

Topics

Atlantic Islands
Autoimmune Diseases of the Nervous System
Child
Child, Preschool
DNA Mutational Analysis
Female
Genetic Markers
Genome-Wide Association Study
Homozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Infant, Newborn

Male

Nervous System Malformations

Oligonucleotide Array Sequence Analysis

Phenotype

Point Mutation

RNA Splice Sites

Source

Open in PubMed

Identifiers

PMID: 22882256
DOI: 10.1111/j.1651-2227.2012.02807.x

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