Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.

Journal of human genetics - 1 Aug 2013

Yrigollen Carolyn M, Mendoza-Morales Guadalupe, Hagerman Randi, Tassone Flora

Abstract excerpt

The CGG repeat within the premutation range in the fragile X mental retardation 1 (FMR1) gene can lead to neurodegenerative disorders and intellectual disabilities. An increase in size upon the transmission from parent to child is more likely to occur for larger alleles and without AGG interruptions. We describe the molecular structure and the transmission of an FMR1 premutation allele in a multigenerational...

Topics

Alleles
Electrophoresis, Capillary
Family
Female
Fragile X Mental Retardation Protein
Gene Expression Regulation
Haplotypes
Humans
Infant, Newborn
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neonatal Screening

Pedigree

Trinucleotide Repeat Expansion

Source

Open in PubMed Open full text

Identifiers

PMID: 23739124
DOI: 10.1038/jhg.2013.50
PMCID: PMC4003888

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.PMID 23739124Read ↗

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.Semantic proximity Read ↗

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.Semantic proximity Read ↗

Large-Scale Whole Genome Sequence Analysis of >22,000 Subjects Provides no Evidence of FMR1 Premutation Allele Involvement in Autism Spectrum Disorder.Semantic proximity Read ↗

Expansion to full mutation of a FMR1 intermediate allele over two generations.Semantic proximity Read ↗

CGG repeat in the FMR1 gene: size matters.Semantic proximity Read ↗

Expansion of an FMR1 grey-zone allele to a full mutation in two generations.Semantic proximity Read ↗

The fragile X premutation: into the phenotypic fold.Semantic proximity Read ↗

Size bias of fragile X premutation alleles in late-onset movement disorders.Semantic proximity Read ↗

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.Semantic proximity Read ↗

Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?Semantic proximity Read ↗

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.Semantic proximity Read ↗

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.