FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3175760641> ?p ?o ?g. }

• W3175760641 abstract "Abstract Background Hereditary motor and sensory neuropathy, also referred to as Charcot–Marie–Tooth disease (CMT), is most often caused by a duplication of the peripheral myelin protein 22 ( PMP22 ) gene. This duplication causes CMT type 1A (CMT1A). CMT1A rarely occurs in combination with other hereditary neuromuscular disorders. However, such rare genetic coincidences produce a severe phenotype and have been reported in terms of “double trouble” overlapping syndrome. Waardenburg syndrome (WS) is the most common form of a hereditary syndromic deafness. It is primarily characterized by pigmentation anomalies and classified into four major phenotypes. A mutation in the SRY sex determining region Y-box 10 ( SOX10 ) gene causes WS type 2 or 4 and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, WS, and Hirschsprung disease. We describe a 11-year-old boy with extreme hypertrophic neuropathy because of a combination of CMT1A and WS type 2. This is the first published case on the co-occurrence of CMT1A and WS type 2. Case presentation The 11-year-old boy presented with motor developmental delay and a deterioration in unstable walking at 6 years of age. In addition, he had congenital hearing loss and heterochromia iridis. The neurological examination revealed weakness in the distal limbs with pes cavus. He was diagnosed with CMT1A by the fluorescence in situ hybridization method. His paternal pedigree had a history of CMT1A. However, no family member had congenital hearing loss. His clinical manifestation was apparently severe than those of his relatives with CMT1A. In addition, a whole-body magnetic resonance neurography revealed an extreme enlargement of his systemic cranial and spinal nerves. Subsequently, a genetic analysis revealed a heterozygous frameshift mutation c.876delT (p.F292Lfs*19) in the SOX10 gene. He was eventually diagnosed with WS type 2. Conclusions We described a patient with a genetically confirmed overlapping diagnoses of CMT1A and WS type 2. The double trouble with the genes created a significant impact on the peripheral nerves system. Severe phenotype in the proband can be attributed to the cumulative effect of mutations in both PMP22 and SOX10 genes, responsible for demyelinating neuropathy." @default.
• W3175760641 created "2021-07-05" @default.
• W3175760641 creator A5002394369 @default.
• W3175760641 creator A5037187263 @default.
• W3175760641 creator A5050841054 @default.
• W3175760641 creator A5062436266 @default.
• W3175760641 creator A5071986751 @default.
• W3175760641 creator A5084364373 @default.
• W3175760641 creator A5086565620 @default.
• W3175760641 date "2021-06-25" @default.
• W3175760641 modified "2023-10-16" @default.
• W3175760641 title "A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy" @default.
• W3175760641 cites W1517393666 @default.
• W3175760641 cites W1559786883 @default.
• W3175760641 cites W1963530184 @default.
• W3175760641 cites W1974578353 @default.
• W3175760641 cites W1986219475 @default.
• W3175760641 cites W1998416988 @default.
• W3175760641 cites W2017741179 @default.
• W3175760641 cites W2018468549 @default.
• W3175760641 cites W2018816922 @default.
• W3175760641 cites W2026537232 @default.
• W3175760641 cites W2032886861 @default.
• W3175760641 cites W2035079223 @default.
• W3175760641 cites W2056420557 @default.
• W3175760641 cites W2078858081 @default.
• W3175760641 cites W2103256993 @default.
• W3175760641 cites W2118733292 @default.
• W3175760641 cites W2145801844 @default.
• W3175760641 cites W2158143524 @default.
• W3175760641 cites W2619439709 @default.
• W3175760641 cites W2792965827 @default.
• W3175760641 cites W2795258685 @default.
• W3175760641 cites W2893702756 @default.
• W3175760641 cites W2913027812 @default.
• W3175760641 cites W2939192520 @default.
• W3175760641 cites W2978318294 @default.
• W3175760641 cites W3012413900 @default.
• W3175760641 doi "https://doi.org/10.1186/s12883-021-02256-y" @default.
• W3175760641 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8228911" @default.
• W3175760641 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34171997" @default.
• W3175760641 hasPublicationYear "2021" @default.
• W3175760641 type Work @default.
• W3175760641 sameAs 3175760641 @default.
• W3175760641 citedByCount "1" @default.
• W3175760641 countsByYear W31757606412022 @default.
• W3175760641 crossrefType "journal-article" @default.
• W3175760641 hasAuthorship W3175760641A5002394369 @default.
• W3175760641 hasAuthorship W3175760641A5037187263 @default.
• W3175760641 hasAuthorship W3175760641A5050841054 @default.
• W3175760641 hasAuthorship W3175760641A5062436266 @default.
• W3175760641 hasAuthorship W3175760641A5071986751 @default.
• W3175760641 hasAuthorship W3175760641A5084364373 @default.
• W3175760641 hasAuthorship W3175760641A5086565620 @default.
• W3175760641 hasBestOaLocation W31757606411 @default.
• W3175760641 hasConcept C104317684 @default.
• W3175760641 hasConcept C118552586 @default.
• W3175760641 hasConcept C126322002 @default.
• W3175760641 hasConcept C141071460 @default.
• W3175760641 hasConcept C142724271 @default.
• W3175760641 hasConcept C16568411 @default.
• W3175760641 hasConcept C2775892965 @default.
• W3175760641 hasConcept C2777938335 @default.
• W3175760641 hasConcept C2778609137 @default.
• W3175760641 hasConcept C2779134260 @default.
• W3175760641 hasConcept C2780168130 @default.
• W3175760641 hasConcept C2780493683 @default.
• W3175760641 hasConcept C2781006897 @default.
• W3175760641 hasConcept C529278444 @default.
• W3175760641 hasConcept C54355233 @default.
• W3175760641 hasConcept C548259974 @default.
• W3175760641 hasConcept C71924100 @default.
• W3175760641 hasConcept C7602840 @default.
• W3175760641 hasConcept C86803240 @default.
• W3175760641 hasConceptScore W3175760641C104317684 @default.
• W3175760641 hasConceptScore W3175760641C118552586 @default.
• W3175760641 hasConceptScore W3175760641C126322002 @default.
• W3175760641 hasConceptScore W3175760641C141071460 @default.
• W3175760641 hasConceptScore W3175760641C142724271 @default.
• W3175760641 hasConceptScore W3175760641C16568411 @default.
• W3175760641 hasConceptScore W3175760641C2775892965 @default.
• W3175760641 hasConceptScore W3175760641C2777938335 @default.
• W3175760641 hasConceptScore W3175760641C2778609137 @default.
• W3175760641 hasConceptScore W3175760641C2779134260 @default.
• W3175760641 hasConceptScore W3175760641C2780168130 @default.
• W3175760641 hasConceptScore W3175760641C2780493683 @default.
• W3175760641 hasConceptScore W3175760641C2781006897 @default.
• W3175760641 hasConceptScore W3175760641C529278444 @default.
• W3175760641 hasConceptScore W3175760641C54355233 @default.
• W3175760641 hasConceptScore W3175760641C548259974 @default.
• W3175760641 hasConceptScore W3175760641C71924100 @default.
• W3175760641 hasConceptScore W3175760641C7602840 @default.
• W3175760641 hasConceptScore W3175760641C86803240 @default.
• W3175760641 hasIssue "1" @default.
• W3175760641 hasLocation W31757606411 @default.
• W3175760641 hasLocation W31757606412 @default.
• W3175760641 hasOpenAccess W3175760641 @default.
• W3175760641 hasPrimaryLocation W31757606411 @default.
• W3175760641 hasRelatedWork W1972162644 @default.
• W3175760641 hasRelatedWork W2030711506 @default.

• next