In:
Clinical Chemistry and Laboratory Medicine (CCLM), Walter de Gruyter GmbH, Vol. 58, No. 12 ( 2020-11-26), p. 2017-2024
Abstract:
Gaucher disease (GD) is the most common inherited lysosomal storage disease, caused by mutations in acid β-glucosidase ( GBA ) gene. This study aimed to identify mutations in Andalusia patients with GD and their genotype-phenotype correlation. Methods Descriptive observational study. University Hospital Virgen del Rocio patients diagnosed from GD from 1999 to 2019 were included. Demographic and clinical data, β-glucocerebrosidase activity, variants pathogenic in GBA gene and biomarkers for monitoring treatment were collected from digital medical record. Results Twenty-six patients with aged between 1 day and 52 years were studied. A total of six mutations described as pathogenic and one mutation not described above [c.937T 〉 C (p.Tyr313His)] were identified in the GBA gene, four patients were homozygotes and 22 compound heterozygotes. Twenty-four patients were diagnosed in non-neuropathic form (type 1) and two cases presented neurological involvement (type 2 or 3). The most common variant was c.1226A 〉 G (p.Asn409Ser), which was detected in 24 patients, followed by c.1448T 〉 C (p.Leu483Pro) variant, identified in 13 patients. The c.1448T 〉 C (p.Leu483Pro) mutation has been presented in the most severe phenotypes with neurological involvement associated with type 2 and 3 GD, while c.1226A 〉 G (p.Asn409Ser) mutation has not been associated with neurological alterations. Splenomegaly and bone disease were the most frequent clinical manifestations, and thrombocytopenia was the most common hematological disorder. Conclusions The c.1226A 〉 G (p.Asn409Ser) and c.1448T 〉 C (p.Leu483Pro) mutations were the most common. The c.937T 〉 C (p.Tyr313His) was identified as a novel mutation. The c.1448T 〉 C (p.Leu483Pro) mutation was associated with neurological alterations and c.1226A 〉 G (p.Asn409Ser) mutation has not been associated it.
Type of Medium:
Online Resource
ISSN:
1434-6621
,
1437-4331
DOI:
10.1515/cclm-2020-0306
Language:
English
Publisher:
Walter de Gruyter GmbH
Publication Date:
2020
detail.hit.zdb_id:
1492732-9
SSG:
15,3
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