Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation
| Autor: | Claire Meyniel, F. Lamari, Valérie Touitou, Giovanni Stevanin, Fanny Mochel, Claire Ewenczyk, Alexandra Durr, Rodolphe Dard |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Male Pathology medicine.medical_specialty Neurodegeneration with brain iron accumulation Hereditary spastic paraplegia Neuroaxonal Dystrophies Biology medicine.disease_cause 03 medical and health sciences 0302 clinical medicine Atrophy Phospholipase A1 Optic Atrophies Hereditary Genetics medicine Humans Genetics (clinical) Mutation Retina Spastic Paraplegia Hereditary Homozygote Brain General Medicine Syndrome Middle Aged medicine.disease Phenotype Iron Metabolism Disorders Magnetic Resonance Imaging Phospholipases A1 030104 developmental biology medicine.anatomical_structure 030217 neurology & neurosurgery Retinopathy |
| Zdroj: | European journal of medical genetics. 60(12) |
| ISSN: | 1878-0849 |
| Popis: | Defects of phospholipids remodelling and synthesis are inborn errors of metabolism responsible for various clinical presentations including spastic paraplegia, retinopathy, optic atrophy, myo- and cardiomyopathies, and osteo-cutaneous manifestations. DDHD1 encodes a phospholipase A1, which is involved in the remodelling of phospholipids. We previously described a relatively pure hereditary spastic paraplegia (HSP) phenotype associated with mutations in DDHD1. Here we report a complex form of HSP associated with retinal dystrophy and a pattern of neurodegeneration with brain iron accumulation (NBIA) on brain MRI, due to a novel homozygous mutation in DDHD1. This observation enlarges the clinical spectrum of DDHD1-associated disorders and sheds light on a new aetiology for syndromes associating retinopathy and NBIA. It also emphasizes the role of complex lipids in the retina. |
| Databáze: | OpenAIRE |
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