Dataset Information

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.

ABSTRACT: Charcot-Marie-Tooth (CMT) disease type 1 is an inherited peripheral neuropathy characterized by demyelination and reduced nerve conduction velocities. We present a multi-generational family with peripheral neuropathy in whom clinical CMT panel testing failed to conclude a molecular diagnosis. We found a PMP2 pathogenic variant c.155T?>?C, p.(Ile52Thr) that segregates with disease suggesting that PMP2 variants should be considered in patients with neuropathy and that it may be prudent to include in clinical CMT gene panels.

SUBMITTER: Punetha J

PROVIDER: S-EPMC6326168 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.

Punetha Jaya J Mackay-Loder Loren L Harel Tamar T Coban-Akdemir Zeynep Z Jhangiani Shalini N SN Gibbs Richard A RA Lee Ian I Terespolsky Deborah D Lupski James R JR Posey Jennifer E JE

Molecular genetics and metabolism 20180824 3

Charcot-Marie-Tooth (CMT) disease type 1 is an inherited peripheral neuropathy characterized by demyelination and reduced nerve conduction velocities. We present a multi-generational family with peripheral neuropathy in whom clinical CMT panel testing failed to conclude a molecular diagnosis. We found a PMP2 pathogenic variant c.155T > C, p.(Ile52Thr) that segregates with disease suggesting that PMP2 variants should be considered in patients with neuropathy and that it may be prudent to include ...[more]

PMID: 30249361

Dataset Information

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.

Publications

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Similar Datasets

High-throughput approaches of diagnosis and therapies for COVID-19: antibody panels, proteomics and metabolomics
| S-EPMC7714045 | biostudies-literature

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.
| S-EPMC6415944 | biostudies-literature

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.
| S-EPMC8580100 | biostudies-literature

Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review.
| S-EPMC8421801 | biostudies-literature

CMT: a constrained multi-level thresholding approach for ChIP-Seq data analysis.
| S-EPMC3988018 | biostudies-literature

Comparison of single-nuclei 5’ versus 3’-RNA-seq approaches: utility for somatic variant detection
2023-01-09 | GSE210670 | GEO

Retrospective Diagnosis of a Novel <i>ACAN</i> Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature.
| S-EPMC8397523 | biostudies-literature

A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.
| S-EPMC7781299 | biostudies-literature

Identification of the underlying causal variant in a multi generational family with autosomal dominant common variable immunodeficiency
| EGAS00001000269 | EGA

Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy.
| S-EPMC4866966 | biostudies-literature