The usher syndrome (US) is an autosomal recessive disorder characterized by congenital bilateral sensorineural hearing loss and progressive visual loss secondary to retinitis pigmentosa. It is the most common cause of the hereditary combined deafness-blindness in the western world. Three different types of US are recognized by clinical criteria. The US type I has severe to profound hearing loss, vestibular dysfunction, and prepubertally diagnosed retinitis pigmentosa, while the US type II has moderate to severe hearing loss, normal vestibular function, and later onset of retinitis pigmentosa. The US type III has a progressive hearing loss and retinitis pigmentosa with variable vestibular involvement. The diagnosis is confirmed by medical history and thorough otoscopical, audiologic, vestibular, and ophthalmological examinations. We have recently experienced a case of the US type I and report this with a brief review of the related literature.
Deaf-Blind Disorders ; Diagnosis ; Hearing Loss ; Hearing Loss, Sensorineural ; Retinitis Pigmentosa ; Usher Syndromes* ; Western World

Adolescent ; Humans ; Male ; Wolfram Syndrome

No abstract available.
Kidney Failure, Chronic* ; Tungsten* ; Wolfram Syndrome*

Wolfram syndrome is a rare genetic spectrum disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, accompanied by other variable clinical manifestations. At present, the prognosis of this syndrome is very poor, the specific molecular mechanism is not clear, effective treatments are lacking to delay, prevent or reverse the development of Wolfram syndrome, and many patients die prematurely due to severe neurological dysfunction. This increases the urgency of the research on the pathogenic molecular mechanism related to Wolfram syndrome and the development of new therapies. This article summarizes the research progress on the pathogenic molecular mechanism and treatment status of Wolfram syndrome, in order to provide reference for the further mechanism research, prevention and treatment of Wolfram syndrome.
Humans ; Wolfram Syndrome/therapy* ; Treatment Outcome ; Records

Wolfram syndrome is a relatively unexplored entity in clinical psychiatry. Historically, the discovery of a specific WFS1 gene had generated huge fanfare regarding specific genetic causations of psychiatric disorders. While the initial enthusiasm has faded now, association of Wolfram syndrome with psychiatric illnesses like schizophrenia, psychosis and suicidal behavior still remain important for understanding biological underpinnings of such disorders. We report a case of Wolfram syndrome presenting with multiple manic episodes, discuss possible genetic underpinnings for the affective symptoms and then discuss certain issues regarding management.
Affective Symptoms ; Bipolar Disorder* ; Comorbidity ; Psychotic Disorders ; Schizophrenia ; Wolfram Syndrome

OBJECTIVEWolfram syndrome (WFS) is a rare, autosomal recessive inherited disease characterized by various clinical manifestations. The aim of this study was to investigate clinical characteristics of WFS.

METHODSOne case of WFS was reported. Combined with the clinical data of 8 cases of WFS which had been reported in China between 1994 and 2007, the clinical characteristics of WFS were reviewed.

RESULTSInsulin-dependent diabetes mellitus as the earliest manifestation was found in all of the 9 patients, with a median onset age of 5.0 years. Optic atrophy occurred in 8 patients (onset age: 8.5 years), diabetes insipidus in 7 patients (onset age: 8.5 years) and deafness in 7 patients (onset age: 9.8 years). Short stature was found in 6 patients and hydroureteronephrosis in 4 patients.

CONCLUSIONSInsulin-dependent diabetes mellitus was the first presentation in children with WFS. Optic atrophy, diabetes insipidus and deafness were common complications, with a various onset age.

Child ; Humans ; Male ; Wolfram Syndrome ; complications ; diagnosis ; therapy

Diabetes insipidus is a disorder caused by complete or partial deficiency or unresponsiveness to antidiuretic hormone. Both diabetes mellitus and diabetes insipidus are well-known causes of polyuria and polydipsia. Although Wolfram Syndrome, which is characterized by the concurrence of diabetes mellitus and diabetes insipidus along with optic atrophy and ataxia, is frequently reported, the concurrence of diabetes insipidus and type 2 diabetes mellitus without optic atrophy and deafness is rare. We report a 31-year-old woman presenting with hyperglycemic hyperosmolar syndrome caused by type 2 diabetes mellitus complicated with concurrent central diabetes insipidus.
Adult ; Ataxia ; Deafness ; Diabetes Insipidus ; Diabetes Insipidus, Neurogenic ; Diabetes Mellitus ; Diabetes Mellitus, Type 2 ; Female ; Humans ; Hyperglycemia ; Optic Atrophy ; Polycystic Ovary Syndrome ; Polydipsia ; Polyuria ; Wolfram Syndrome

Diabetes insipidus is a disorder caused by complete or partial deficiency or unresponsiveness to antidiuretic hormone. Both diabetes mellitus and diabetes insipidus are well-known causes of polyuria and polydipsia. Although Wolfram Syndrome, which is characterized by the concurrence of diabetes mellitus and diabetes insipidus along with optic atrophy and ataxia, is frequently reported, the concurrence of diabetes insipidus and type 2 diabetes mellitus without optic atrophy and deafness is rare. We report a 31-year-old woman presenting with hyperglycemic hyperosmolar syndrome caused by type 2 diabetes mellitus complicated with concurrent central diabetes insipidus.
Adult ; Ataxia ; Deafness ; Diabetes Insipidus ; Diabetes Insipidus, Neurogenic ; Diabetes Mellitus ; Diabetes Mellitus, Type 2 ; Female ; Humans ; Hyperglycemia ; Optic Atrophy ; Polycystic Ovary Syndrome ; Polydipsia ; Polyuria ; Wolfram Syndrome

Wolfram-like disorder is one of the WFS1-related disorders that are caused by mutation of the WFS1 genes. WFS1-related disorders are classified as Wolfram syndrome, Wolfram like disorder and nonsyndromic low-frequency sensorineural hearing loss (DFNA6/14/38). Wolfram syndrome is known to DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness), and it is an autosomal-recessive disorder that predisposes a patient to developing type 1 diabetes in association with progressive optic atrophy, and the disease shows various phenotypes. Wolfram like disorder is an autosomal-dominant disorder that predisposes a patient to develop type 2 diabetes in association with optic atrophy and hearing impairment. We experienced a case of Wolfram like disorder with diabetes, optic atrophy and sensorineural hearing loss in a 28-year-old woman who was admitted to our hospital. Our case demonstrated the E737K missense mutation on the WFS1 gene, which has been previously reported in the medical literature. The diagnosis of WFS1-related disorder was confirmed by the clinical features and molecular genetic testing of the WFS1 gene.
Adult ; Diabetes Mellitus ; Diabetes Mellitus, Type 2 ; Female ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Molecular Biology ; Mutation, Missense ; Optic Atrophy ; Phenotype ; Tungsten ; Wolfram Syndrome

OBJECTIVETo explore the mutations of Wolfram syndrome I gene (WFS1) in families affected by non-syndromic low frequency sensorineural hearing loss (NS-LFSNHL).

METHODSTwenty eight individuals from 6 pedigrees with hereditary non-syndromic low frequency sensorineural hearing loss as a dominant trait and cases of control were collected in the present study. The coding sequence of WFS1 gene was amplified by polymerase chain reaction (PCR), and direct DNA sequencing was performed to screen the entire coding region of the WFS1 gene for mutations in the WFS1.

RESULTSThree heterozygous missense mutations (2016 G-->T, 2379 G-->4A, 2766 G-->A) in the WFS1 gene were found in two families. Mutations in WFS1 were identified in all patients tested of the two pedigrees. None of the mutations was found in at least 280 control chromosomes and normal individuals of the families. These missense mutations affecting conserved amino acids in two pedigrees.

CONCLUSIONSMutations in WFS1 are one of causes of non-syndromic low frequency sensorineural hearing loss, and the majority of mutations are missense mutations. Genetic counseling and genetic testing may be useful in the management of patients with this type of hearing loss.

Adolescent ; Adult ; Case-Control Studies ; Female ; Hearing Loss ; etiology ; genetics ; Heterozygote ; Humans ; Male ; Membrane Proteins ; genetics ; Middle Aged ; Mutation ; Pedigree ; Phenotype ; Wolfram Syndrome ; genetics ; Young Adult