Gene: PRX

Alternate names for this Gene: CMT4F

Gene Summary: This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: periaxin

Type of Gene: protein-coding

rs104894714 in PRX gene and CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F PMID 11133365 2001 Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

rs104894707 in PRX gene and Charcot-Marie-Tooth disease type 4 PMID 12112076 2002 Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

PMID 15469949 2004 Clinicopathological and genetic study of early-onset demyelinating neuropathy.

PMID 15197604 2004 Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.

PMID 11133365 2001 Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

PMID 26059842 2016 The use of whole-exome sequencing to disentangle complex phenotypes.

PMID 16770524 2006 Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.

PMID 22847150 2012 Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.

PMID 27862672 2017 Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.

PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

rs104894708 in PRX gene and Dejerine-Sottas Disease (disorder) PMID 11157804 2001 A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

PMID 26059842 2016 Through the use of whole-exome sequencing we were able to simplify this complex phenotype and identified a causative mutation (p.R1070*) in the gene periaxin (PRX), a gene previously shown to cause peripheral neuropathy (Dejerine-Sottas syndrome) when this mutation is present.

PMID 15197604 2004 Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.

PMID 21079185 2010 Four novel cases of periaxin-related neuropathy and review of the literature.

PMID 22847150 2012 Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.

PMID 11133365 2001 Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

PMID 24078732 2013 Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

rs16974263 in PRX gene and Otitis Media PMID 27632927 2016 Genome-wide association analysis reveals variants on chromosome 19 that contribute to childhood risk of chronic otitis media with effusion.

rs104894708 in PRX gene and Peripheral demyelinating neuropathy PMID 11157804 2001 A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

PMID 22847150 2012 Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.

PMID 21079185 2010 Four novel cases of periaxin-related neuropathy and review of the literature.

PMID 26059842 2016 The use of whole-exome sequencing to disentangle complex phenotypes.

PMID 15197604 2004 Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.