Further supporting evidence for REEP1 phenotypic and allelic heterogeneity
| Autor: | Maroofian, Reza, Behnam, Mahdiyeh, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Salehi, Mansour, Houlden, Henry |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Mutation Respiratory distress Congenital distal spinal muscular atrophy Endoplasmic reticulum Spinal muscular atrophy Biology SMA medicine.disease medicine.disease_cause Phenotype 3. Good health 03 medical and health sciences 030104 developmental biology 0302 clinical medicine medicine Allelic heterogeneity Neurology (clinical) Clinical/Scientific Notes 030217 neurology & neurosurgery Genetics (clinical) |
| Zdroj: | Neurology: Genetics |
| ISSN: | 2376-7839 |
| Popis: | Heterozygous mutations in REEP1 (MIM #609139) encoding the receptor expression-enhancing protein 1 (REEP1) are a well-recognized and relatively frequent cause of autosomal dominant hereditary spastic paraplegia (HSP), SPG31.1 REEP1 localizes in the mitochondria and endoplasmic reticulum (ER) and facilitates ER-mitochondria interactions.2 In addition to the HSP phenotype, REEP1 has been associated with an autosomal dominant spinal type of Charcot-Marie-Tooth disease in 2 families.3 More recently, a patient with homozygous REEP1 mutation with a much more severe phenotype akin to spinal muscular atrophy with respiratory distress type 1 (SMARD1) was reported.4 In this report, we present a patient with a homozygous mutation in REEP1 manifesting a severe congenital distal spinal muscular atrophy (SMA) with diaphragmatic paralysis, expanding the phenotype from mild autosomal dominant HSP through to severe recessive distal SMA pattern. |
| Databáze: | OpenAIRE |
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