Wolfram syndrome 1 and Wolfram syndrome 2

Clinical utility gene card for: Wolfram syndrome

“…3.1.2 Describe the burden of alternative diagnostic methods to the patient WFS1 is a progressive neurodegenerative disorder characterised by the onset of DM around the age of 6 (range: 3 weeks-16 years), with optic atrophy developing typically by age 11 (range: 6 weeks-19 years). 22 It is commonly associated with high-frequency sensorineural hearing loss (62%), which presents around age 16 (range: 5-19 years). 13 Progressive neurologic abnormalities (60%, including cerebellar ataxia, peripheral neuropathy, dementia and psychiatric illness), urinary tract defects (60-90%, including ureteric obstruction, bladder atony and sphincter dyssynergia, and incontinence) and other endocrine abnormalities associated with pituitary dysfunction, such as hypogonadism and DI (51-87%) presenting around age 14 (range: 3 months-40 years).…”

“…13 Progressive neurologic abnormalities (60%, including cerebellar ataxia, peripheral neuropathy, dementia and psychiatric illness), urinary tract defects (60-90%, including ureteric obstruction, bladder atony and sphincter dyssynergia, and incontinence) and other endocrine abnormalities associated with pituitary dysfunction, such as hypogonadism and DI (51-87%) presenting around age 14 (range: 3 months-40 years). 22 The median age of death is 27 ± 11.4 years. 12 Patients with WFS2 have overlapping features with WFS1, plus defective platelet aggregation resulting in peptic ulcer bleeding, but importantly an absence of DI.…”

Asociación entre el síndrome de Wolfram y la tetralogía de Fallot en una niña

“…El diagnóstico temprano y el manejo adecuado del paciente ayudarían a prevenir la aparición de complicaciones. n REFERENCIAS 10 De manera similar a la wolframina, la proteína intermembrana pequeña del retículo endoplásmico (endoplasmic reticulum intermembrane small protein, ERIS), codificada por el CISD2, se localiza en el retículo endoplásmico. 10 En algunos pacientes con síndrome de Wolfram s e d e m o s t r a r o n m u t a c i o n e s e n e l A D N mitocondrial.…”

“…n REFERENCIAS 10 De manera similar a la wolframina, la proteína intermembrana pequeña del retículo endoplásmico (endoplasmic reticulum intermembrane small protein, ERIS), codificada por el CISD2, se localiza en el retículo endoplásmico. 10 En algunos pacientes con síndrome de Wolfram s e d e m o s t r a r o n m u t a c i o n e s e n e l A D N mitocondrial. 11,12 Los defectos mitocondriales que producen diabetes mellitus suelen estar acompañados por trastornos neurovasculares, que incluyen retraso mental, migraña, sordera y convulsiones.…”

Wolfram syndrome: Are we aware of the severe hypoglycemic unawareness?

“…Recently, Wolfram syndrome 2 has been described and is caused by mutation in the CISD2 gene on chromosome 4q22-q24 [6] which encodes the protein ERIS. This protein also localizes to the endoplasmic reticulum but does not interact directly with WOLFRAMIN [7]. WS2 will not be discussed further in this article.…”