Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.
SGSH
Usher syndrome
mucopolysaccharidosis type IIIA
pericentral retinitis pigmentosa
reverse phenotyping
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
27 Dec 2023
27 Dec 2023
Historique:
revised:
01
12
2023
received:
27
09
2023
accepted:
09
12
2023
medline:
27
12
2023
pubmed:
27
12
2023
entrez:
27
12
2023
Statut:
aheadofprint
Résumé
Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo syndrome type A) is an autosomal recessive lysosomal storage disorder caused by pathogenic variants in the SGSH gene encoding N-sulfoglucosamine sulfohydrolase, an enzyme involved in the degradation of heparan sulfate. MPS IIIA is typically characterized by neurocognitive decline and hepatosplenomegaly with childhood onset. Here, we report on a 53-year-old male subject initially diagnosed with Usher syndrome for the concurrence of retinitis pigmentosa and sensorineural hearing loss. Clinical exome sequencing identified biallelic missense variants in SGSH, and biochemical assays showed complete deficiency of sulfamidase activity and increased urinary glycosaminoglycan excretion. Reverse phenotyping revealed left ventricle pseudo-hypertrophy, hepatosplenomegaly, bilateral deep white matter hyperintensities upon brain MRI, and decreased cortical metabolic activity by PET-CT. On neuropsychological testing, the proband presented only partial and isolated verbal memory deficits. This case illustrates the power of unbiased, comprehensive genetic testing for the diagnosis of challenging mild or atypical forms of MPS IIIA.
Identifiants
pubmed: 38149346
doi: 10.1002/ajmg.a.63517
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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