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The Heterozygous p.A684V Variant in the Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype.
Genes (Basel)
January 2025
Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
Background/objectives: A heterozygous mutation in the gene is responsible for autosomal dominant non-syndromic hearing loss (DFNA6/14/38) and Wolfram-like syndrome, which is characterized by bilateral sensorineural hearing loss with optic atrophy and/or diabetes mellitus. However, detailed clinical features for the patients with the heterozygous p.A684V variant remain unknown.
View Article and Find Full Text PDFWolfram syndrome is an extremely rare condition composed of a tetrad of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. When concurrently presenting with another condition, such as tuberculous meningitis, the widespread range of resulting symptoms delays the establishment of diagnosis and treatment, which results in increased patient morbidity.
View Article and Find Full Text PDFPatients with a Wide Range of Disorders Related to Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.
Genes (Basel)
December 2024
Department of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213 Lodz, Poland.
-spectrum disorders are caused by a mutation in the gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a single causative variant in the gene, such as Wolfram-like syndrome, low-frequency sensorineural hearing loss (LFSNHL), isolated diabetes mellitus (DM), nonsyndromic optic atrophy (OA), and isolated congenital cataracts. The aim of this study was to evaluate genotype-phenotype correlations in Polish patients with -spectrum disorders.
View Article and Find Full Text PDFCochlear implant in Wolfram syndrome: A case report.
Cochlear Implants Int
December 2024
Department of ENT and Head & Neck Surgery, Seth GS Medical College & K.E.M. Hospital, Mumbai, India.
Introduction: Wolfram syndrome, a rare autosomal recessive disorder, is characterised by diabetes insipidus, juvenile diabetes mellitus, optic nerve atrophy and deafness (DIDMOAD).
Case Report: We present a case of a 21-year-old male diagnosed with Wolfram syndrome who underwent cochlear implantation due to progressive hearing loss. The patient first complained of bilateral hearing loss at the age of 8 years.
Foecal incontinence disorders in Wolfram syndrome: a new manifestation.
J Med Genet
January 2025
Functional Unity of Ophthalmology, ERN Eye, Ophthalmological Rare Diseases Center, Georges Pompidou European Hospital, Paris, France
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