Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy
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چکیده
منابع مشابه
Identification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome
Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family. Case Report: The...
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conclusions bioinformatics analyses using sift, mutation taster and polyphen-2 indicated that p.ile563val was predicted to be damaging, disease causing, and probably damaging to and causing ldb3 dysfunction. as such, this mutation produces novel protein coding transcripts, which might explain the mfm phenotype in the patient. introduction myofibrillar myopathy (mfm) is a rare human disease, cha...
متن کاملA Novel Nonsense mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthe...
متن کاملa novel missense mutation in the gne gene in an iranian patient with hereditary inclusion body myopathy
hereditary inclusion body myopathy (hibm) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. this myopathy is autosomal recessive and associated to upd-n-acetylglucosamine-2-epimerase/n-acetylmannosamine kinase (gne) gene mutations. in this study, we report a novel gne homozygous point mutation c.1834t>g that results in amino acid substitution of cysteine 6...
متن کاملIdentification of a Novel CLCNKB Mutation in an Iranian Family with Bartter Syndrome Type 3.
Bartter syndrome (BS) is a group of uncommon genetic disorders of reabsorption of salt in the cortical thick ascending limb (TAL) of the Henle's loop, typically distinguished by metabolic alkalosis, salt loss, hypokalemia, hyperreninemic hyperaldosteronism and normal blood pressure. Bartter syndrome type 3, recognized as a classic BS (CBS), occurs because of mutations in CLCNKB gene. We enroll...
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ژورنال
عنوان ژورنال: Genes & Diseases
سال: 2018
ISSN: 2352-3042
DOI: 10.1016/j.gendis.2018.09.004