A Wolfram-like syndrome family: Case report.
Eur J Ophthalmol
; 34(4): NP51-NP57, 2024 Jul.
Article
in En
| MEDLINE
| ID: mdl-38470317
ABSTRACT
BACKGROUND:
Wolfram-like syndrome (WFLS) is an autosomal dominant inherited disease characterized by a single heterozygous pathogenic variant in the WFS1 gene. Its clinical presentation is similar to autosomal recessive Wolfram syndrome. CASE PRESENTATION We reported a case of a 10-year-old boy and his family members who initially experienced hearing impairment (HI), followed by optic atrophy. Genetic testing revealed the presence of a WFS1 variant (chr4-6302385 exon8 NM_006005.3 c.2590G > A, p. Glu864Lys).CONCLUSION:
Wolfram-like syndrome, a rare neurodegenerative genetic disorder, manifested as deafness, optic atrophy, and diabetes mellitus. There hasn't been a definite treatment yet. Early identification of the variant in the WFS1 gene is beneficial for genetic counseling.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pedigree
/
Wolfram Syndrome
/
Membrane Proteins
Limits:
Child
/
Humans
/
Male
Language:
En
Journal:
Eur J Ophthalmol
Journal subject:
OFTALMOLOGIA
Year:
2024
Document type:
Article
Affiliation country:
China