Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site.

doi:10.1111/ahg.12151

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

Community

Back to search

Article

Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site.

Annals of human genetics - 1 May 2016

Neupauerová Jana, Grečmalová Dagmar, Seeman Pavel, Laššuthová Petra

Abstract excerpt

We describe a patient with early onset severe axonal Charcot-Marie-Tooth disease (CMT2) with dominant inheritance, in whom Sanger sequencing failed to detect a mutation in the mitofusin 2 (MFN2) gene because of a single nucleotide polymorphism (rs2236057) under the PCR primer sequence. The severe early onset phenotype and the family history with severely affected mother (died after delivery) was very suggestive...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Child, Preschool

Share to DNA Mutational Analysis

Share to DNA Primers

Share to GTP Phosphohydrolases

Share to High-Throughput Nucleotide Sequencing

Share to Mitochondrial Proteins

Share to Pedigree

Source

Open in PubMed

Identifiers

PMID: 26916081
DOI: 10.1111/ahg.12151

Genes

MFN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site.PMID 26916081Read ↗

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.Semantic proximity Read ↗

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.Semantic proximity Read ↗

Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.Semantic proximity Read ↗

Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology.Semantic proximity Read ↗

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.Semantic proximity Read ↗

Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.Semantic proximity Read ↗

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).Semantic proximity Read ↗

Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.Semantic proximity Read ↗

Novel mitofusin 2 splice-site mutation causes Charcot-Marie-Tooth disease type 2 with prominent sensory dysfunction.Semantic proximity Read ↗

A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene.Semantic proximity Read ↗

Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.Semantic proximity Read ↗

A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A.Semantic proximity Read ↗

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