Wolfram-like syndrome

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Wolfram-like syndrome
Other namesAtypical Wolfram syndrome[1]
SpecialtyMedical genetics
Usual onsetChildhood
CausesGenetic mutation
Differential diagnosisIsolated diabetes mellitus/insipidus[2][3]
PreventionNone
FrequencyRare, very few cases have been described in medical literature
DeathsSome of the deaths are associated with the suicidal thoughts that a small number of people with the disorder have as a comorbidity to depression (rare symptom of Wolfram-like syndrome)

Wolfram-like syndrome is a rare autosomal dominant genetic disorder that shares some of the features shown by those affected with the autosomal recessive Wolfram syndrome.[4] It is a type of WFS1-related disorder.[5][6][7][8]

Signs and symptoms[edit]

Individuals with Wolfram-like syndrome usually exhibit early-onset progressive hearing loss which starts around the age of 10 years old, early-onset optic atrophy which usually manifests in a person's mid-teenage–late adulthood years of life, and adult-onset diabetes mellitus.[9]

Psychiatric symptoms can also rarely manifest in people with the condition, consisting of hallucinations, depression, anxiety, and sleep disorders.[9] Psychosis and autism are sometimes seen as features of the disorder.[10]

Other symptoms include nephrocalcinosis, psychomotor delay, glaucoma, and megalocornea.[11]

Complications[edit]

Psychiatric symptoms that may appear in patients with this condition, particularly depression, can cause a patient to live in a constantly miserable state of mind, which can lead some patients to develop suicidal tendencies, which can lead to committing suicide.[10]

Genetics[edit]

The condition is caused by mutations in the WFS1 gene,[12] which are inherited in an autosomal dominant manner. This mutation is usually inherited, but there are cases where the mutation is de novo.[13]

Mutations in WFS1 are also associated with other disorders affecting vision or hearing (aside from Wolfram syndrome[14]), such as non-syndromic autosomal dominant deafness type 6[15][16][17][18] and isolated autosomal dominant congenital cataracts.[19]

In rare cases, a mutation in the CDK13 gene is responsible for the disorder; this genetic mutation has only been described in three affected children belonging to a consanguineous Pakistani family who, in addition to the typical symptoms of the disorder, also had gastrointestinal tract anomalies, congenital heart defects, and clinodactyly.[20]

Diagnosis[edit]

The following diagnostic methods can be used to diagnose Wolfram-like syndrome:

  • Blood tests[23]
    • A1C test
    • Oral glucose tolerance testing
  • At-home hearing loss tests[24]
    • Hearing loss screening mobile apps
    • Whisper test
  • In clinical setting hearing loss tests[24]
    • Audiometer tests
    • Tuning fork test
    • Physical examination

Psychiatric symptoms[edit]

  • Depression
    • Use of the DSM-5 depression diagnosis criteria[27]
    • Physical examination[27]
    • Laboratory studies[27]
    • Psychiatric evaluation[27]
  • Anxiety
    • Use of the DSM-5 criteria for anxiety disorder[28]
    • Psychological evaluation[28]

Treatment[edit]

There is no standard management method for Wolfram-like syndrome.[29]

Prevalence[edit]

According to the Online Mendelian Inheritance in Man, around 15 to 20 cases from four affected families with Wolfram-like syndrome have been described in medical literature. All of the families studied were European by ancestry and nationality. The countries the families originated from were Denmark, the Netherlands, France, and Sweden.[30]

History[edit]

The disorder was seemingly first described in 1940 by Samuelson et al., where their patients were four members of a Swedish family with an apparently never-described-before combination of autosomal dominant sensorineural deafness and optic atrophy. The family was later re-examined in 2011 by Rendtorff et al.[citation needed]

In 2006, Eiberg et al. described four affected members from a three-generation Danish family, where affected individuals showed a phenotype similar to that shown by patients with Wolfram syndrome, though symptoms associated with the family's unique disorder was inherited following an autosomal dominant manner. All individuals had progressive hearing loss starting in childhood and optic atrophy with onset in either childhood or middle age. Three out of the four individuals were found to have irregular glucose regulation, one had reduced glucose tolerance, another one was found to have diabetes which was previously undiagnosed, and yet another one of the patients was found to have decreased function of the pancreas beta cells. One out of the four individuals had a diagnosed anxiety disorder as well as a sleep disorder. Non-syndromic isolated congenital deafness was found in two other family members, although they were otherwise unaffected.[31]

The third case report was made by Valéro et al. in 2008, in which they described a 60-year-old man and his 81-year-old mother from France. Both of them had noninsulin-dependent diabetes mellitus and childhood-onset hearing loss. The mother was the most affected: her phenotype consisted of additional features her son did not suffer from, including severe vision impairment and bilateral optic nerve atrophy.[32]

The fourth case report was written by Hogewind et al., whose patients were three affected members of a two-generation Dutch family (two brothers and their mother). The three of them suffered from hearing loss ranging from moderate to severe and optic neuropathy but they did not have any other symptoms, including the ones usually associated with both Wolfram syndrome and Wolfram-like syndrome (such as diabetes mellitus/insipidus or depression), but they had red-green colour blindness. The elder sibling and the mother were found to have severe hearing loss which heavily diminished their ability at recognizing speech, while the younger brother was relatively okay at doing so. All three individuals were found to have ocular scotomas (also known as blind spot) and neuroretinal rim loss. They were the only affected people with the disorder in their family.[33]

The fifth case report was a re-examination of the Swedish family reported in 1940 by Samuelson et al. The phenotypical variability rate among affected family members was found to be high. Additional details were revealed in this reexamination of the family; the proband of the original study was found to not only suffer from the typical deafness-visual impairment phenotype commonly associated with the syndrome, but they also had hallucinations and depression. Four of their other family members had undergone therapy for anxiety and one of their family members committed suicide. Visual/ocular features included optic atrophy and glaucoma, the latter of which was highly treatable.[34]

Relation with Wolfram syndrome[edit]

Although both conditions are caused by a mutation in the WFS1 gene, they have different phenotypical features and different inheritance patterns. While Wolfram syndrome tends to follow an autosomal recessive inheritance pattern,[35] Wolfram-like syndrome follows an autosomal dominant inheritance pattern.[36] In Wolfram syndrome, symptoms such as intellectual disabilities, ataxia, anosmia, ageusia, and/or sleep apnea, alongside other cardiac and/or endocrine symptoms[37] are absent in Wolfram-like syndrome.[9][38][39][40] The onset of certain symptoms also differs between patients with Wolfram syndrome and patients with Wolfram-like syndrome.[41] Hearing impairments are not present in every person with Wolfram-like syndrome. Wolfram-like syndrome is also known to be less severe than Wolfram syndrome.[42][43]

See also[edit]

References[edit]

  1. ^ Mair H, Fowler N, Papatzanaki ME, Sudhakar P, Maldonado RS (August 2022). "Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome". Ophthalmic Genetics. 43 (4): 567–572. doi:10.1080/13816810.2022.2068038. PMID 35450504. S2CID 248323128.
  2. ^ Silvestri F, Tromba V, Costantino F, Palaniappan N, Urano F (2022-05-01). "Two Cases of Wolfram Syndrome Who Were Initially Diagnosed With Type 1 Diabetes". AACE Clinical Case Reports. 8 (3): 128–130. doi:10.1016/j.aace.2022.01.001. PMC 9123558. PMID 35602877.
  3. ^ Homa K, Stefański A, Zmysłowska A, Molęda P, Bryśkiewicz ME, Majkowska L (2014). "False diagnosis of type 1 diabetes mellitus and its complications in Wolfram syndrome--is it the reason for the low number of reported cases of this abnormality?". Endokrynologia Polska. 65 (5): 398–400. doi:10.5603/EP.2014.0055. PMID 25301491.
  4. ^ Fonfría AC, Santos-Bueso E, Benítez-del-Castillo JM, Porta-Etessam J (November 2018). "A new mutation in a patient with Wolfram syndrome". Neurología (English Edition). 33 (9): 618–619. doi:10.1016/j.nrleng.2016.06.013. ISSN 2173-5808. S2CID 196565354.
  5. ^ Choi SU, Bae SK, Kim HS, Kim KR, Hur KH, Lim SH, Hong YA, Chung SC (2010-06-01). "A Case of Wolfram Like Disorder with Type 2 Diabetes Mellitus in an Adult". Endocrinology and Metabolism. 25 (2): 131–134. doi:10.3803/EnM.2010.25.2.131. ISSN 2093-596X. S2CID 72966667.
  6. ^ Choi SU, Bae SK, Kim HS, Kim KR, Hur KH, Lim SH, Hong YA, Chung SC (2010). "A Case of Wolfram Like Disorder with Type 2 Diabetes Mellitus in an Adult". Endocrinology and Metabolism. 25 (2): 131–134. doi:10.3803/EnM.2010.25.2.131. ISSN 2093-596X. S2CID 72966667.
  7. ^ a b "WFS1 Gene Sequencing for Low Frequency Non Syndromic Hearing Loss | PCPGM". personalizedmedicine.partners.org. Retrieved 2022-10-07.
  8. ^ "Orphanet: Síndrome de Wolfram". www.orpha.net (in Spanish). Retrieved 2022-10-07.
  9. ^ a b c "Orphanet: Wolfram like syndrome". www.orpha.net. Retrieved 2022-10-07.
  10. ^ a b "Wolfram-like syndrome (Concept Id: C3280358) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-10-07.
  11. ^ Prochazkova D, Hruba Z, Konecna P, Skotakova J, Fajkusova L (December 2016). "A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report". Journal of Clinical Research in Pediatric Endocrinology. 8 (4): 482–483. doi:10.4274/jcrpe.3021. PMC 5198010. PMID 27217304.
  12. ^ Smetek M, Gadzalska K, Jakiel P, Grzybowska J, Mysliwiec M, Borowiec M, Zmysłowska A (January 2022). "Wolfram-like syndrome - another face of a rare disease in children". Journal of Pediatric Endocrinology & Metabolism. 35 (1): 121–124. doi:10.1515/jpem-2021-0348. PMID 34643356. S2CID 238639054.
  13. ^ "Autosomal dominant inheritance pattern". Mayo Clinic. Retrieved 2022-10-07.
  14. ^ Marshall BA, Permutt MA, Paciorkowski AR, Hoekel J, Karzon R, Wasson J, et al. (April 2013). "Phenotypic characteristics of early Wolfram syndrome". Orphanet Journal of Rare Diseases. 8 (1): 64. doi:10.1186/1750-1172-8-64. PMC 3651298. PMID 23981289.
  15. ^ Bespalova IN, Van Camp G, Bom SJ, Brown DJ, Cryns K, DeWan AT, et al. (October 2001). "Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss". Human Molecular Genetics. 10 (22): 2501–2508. doi:10.1093/hmg/10.22.2501. PMC 6198816. PMID 11709537.
  16. ^ Li J, Xu H, Sun J, Tian Y, Liu D, Qin Y, et al. (2021-03-04). "Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype". BioMed Research International. 2021: 6624744. doi:10.1155/2021/6624744. PMC 8260318. PMID 34258273.
  17. ^ Noguchi Y, Yashima T, Hatanaka A, Uzawa M, Yasunami M, Kimura A, Kitamura K (November 2005). "A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss". Acta Oto-Laryngologica. 125 (11): 1189–1194. doi:10.1080/00016480510044232. PMID 16353398. S2CID 12483398.
  18. ^ Hildebrand MS, Sorensen JL, Jensen M, Kimberling WJ, Smith RJ (September 2008). "Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1". American Journal of Medical Genetics. Part A. 146A (17): 2258–2265. doi:10.1002/ajmg.a.32449. PMC 2586182. PMID 18688868.
  19. ^ Abreu D, Urano F (October 2019). "Current Landscape of Treatments for Wolfram Syndrome". Trends in Pharmacological Sciences. 40 (10): 711–714. doi:10.1016/j.tips.2019.07.011. PMC 7547529. PMID 31420094.
  20. ^ Acharya A, Raza SI, Anwar MZ, Bharadwaj T, Liaqat K, Khokhar MA, et al. (October 2021). "Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13". Journal of Human Genetics. 66 (10): 1009–1018. doi:10.1038/s10038-021-00922-0. PMC 8472924. PMID 33879837.
  21. ^ Washington University School of Medicine (2022-04-27). "Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study". American Diabetes Association, National Institutes of Health (NIH).
  22. ^ "Genetic Testing for Hereditary Hearing LLoss BlueCross BlueShield of South Carolina". www.southcarolinablues.com. Retrieved 2022-10-07.
  23. ^ "Diabetes - Diagnosis and treatment - Mayo Clinic". www.mayoclinic.org. Retrieved 2022-10-07.
  24. ^ a b "Hearing loss - Diagnosis and treatment - Mayo Clinic". www.mayoclinic.org. Retrieved 2022-10-07.
  25. ^ a b "Optic Atrophy: Causes, Symptoms, Diagnosis & Outcome". Cleveland Clinic. Retrieved 2022-10-07.
  26. ^ Ahmad SS, Kanukollu V (2022). "Optic Atrophy". StatPearls. Treasure Island (FL): StatPearls Publishing. PMID 32644556. Retrieved 2022-10-07.
  27. ^ a b c d "Depression (major depressive disorder) - Diagnosis and treatment - Mayo Clinic". www.mayoclinic.org. Retrieved 2022-10-07.
  28. ^ a b "Anxiety disorders - Diagnosis and treatment - Mayo Clinic". www.mayoclinic.org. Retrieved 2022-10-07.
  29. ^ Weiland N (2021-12-08). "Medical Hero Story: Richie Kahn & Wolfram-like Syndrome". Center for Information & Study on Clinical Research Participation. Retrieved 2022-10-07.
  30. ^ "Entry - #614296 - WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL - OMIM". www.omim.org. Retrieved 2022-10-07.
  31. ^ Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, Bille M, et al. (May 2006). "Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene". Journal of Medical Genetics. 43 (5): 435–440. doi:10.1136/jmg.2005.034892. PMC 2649014. PMID 16648378.
  32. ^ Valéro R, Bannwarth S, Roman S, Paquis-Flucklinger V, Vialettes B (June 2008). "Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene". Diabetic Medicine. 25 (6): 657–661. doi:10.1111/j.1464-5491.2008.02448.x. PMID 18544103. S2CID 6521827.
  33. ^ Hogewind BF, Pennings RJ, Hol FA, Kunst HP, Hoefsloot EH, Cruysberg JR, Cremers CW (January 2010). "Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1". Molecular Vision. 16: 26–35. PMC 2805421. PMID 20069065.
  34. ^ Rendtorff ND, Lodahl M, Boulahbel H, Johansen IR, Pandya A, Welch KO, et al. (June 2011). "Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment". American Journal of Medical Genetics. Part A. 155A (6): 1298–1313. doi:10.1002/ajmg.a.33970. PMC 3100366. PMID 21538838.
  35. ^ Esteban Bueno G, Ruano García M, Grandes Velasco S, Villar Gómez de las Heras K (February 2013). "Una familia con síndrome de Wolfram". Revista Clínica de Medicina de Familia. 6 (1): 54–57. doi:10.4321/S1699-695X2013000100011. ISSN 1699-695X.
  36. ^ Konečná P, Procházková D, Doležel Z, Skotáková J, Fajkusová L (2016). The Wolfram-like syndrome: a case report (Report) (in Czech).
  37. ^ Lynch T (February 2020). "Family reflections: our family's journey with Wolfram syndrome". Pediatric Research. 87 (3): 608. doi:10.1038/s41390-019-0661-8. PMC 7223906. PMID 31698411.
  38. ^ "Wolfram Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2022-10-07.
  39. ^ Mair H, Fowler N, Sudhakar P, Maldonado R (2021-06-21). "Rare case of Wolfram-like Syndrome case due to a missense WFS1 mutation". Investigative Ophthalmology & Visual Science. 62 (8): 1561. ISSN 1552-5783.
  40. ^ "A revealing flaw". AAAS. Retrieved 2022-10-07.
  41. ^ Atipo-Tsiba PW, Odzili FA (2015). "Wolfram syndrome: Case report". East African Medical Journal. 92 (9): 468–469. doi:10.4314/eamj.v92i9 (inactive 31 January 2024). ISSN 0012-835X.{{cite journal}}: CS1 maint: DOI inactive as of January 2024 (link)
  42. ^ Stanik J, Skopkova M, Varga L, Masindova I, Jancova E, Profant M, Gasperikova D (2019-08-22). "A Novel Variant of the WFS1 Gene with Dominant Inheritance Causing Wolfram-like Syndrome". ESPE Abstracts. 92. Bioscientifica.
  43. ^ "Unravel Wolfram Syndrome". Unravel Wolfram Syndrome. Retrieved 2022-10-07.
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