A family with Fabry disease diagnosed by a single angiokeratoma

Corry, A.; Feighery, Clióna; Alderdice, David; Stewart, Fiona; Walsh, Maureen; Dolan, O.M.

doi:10.5070/d35bk233zq

Cited by 9 publications

(3 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is understandable that some of those patients may be diagnosed with Fabry disease because of unexplained signs and symptoms, laboratory official reports classifying these variants as pathogenic, and the availability of published papers in the medical literature where A143T or R118C subjects are considered affected, especially in cases with elevation of Lyso-Gb3. [45][46][47][48][49] Our results show that if you use the MSSI to evaluate severity in those subjects without establishing a definite diagnosis, scores may disclose "moderate" disease in some of the patients. Practitioners should be careful not to over-emphasize these findings without definitive evidence of substrate accumulation, either directly by tissue analysis or indirectly by biomarker analysis.…”

Section: Discussionmentioning

confidence: 74%

Patient-Reported Outcomes in Subjects With A143T and R118C GLA Gene Variants

Neto

Bento

Pereira

2021

J. inborn errors metab. screen.

View full text Add to dashboard Cite

Background: Fabry disease (FD) is caused by pathogenic variants in the GLA gene. A143T and R118C variants are considered not disease causing. Patient-reported outcomes provide information concerning the effects of their disease but should be carefully analyzed in rare diseases. Objectives: To evaluate pain, depression, sleep disturbances, disability and quality of life in A143T or R118C Brazilian subjects and compare to data published for classic FD patients. Methods: Nineteen subjects -8:11 male:female -were evaluated and answered the questionnaires: Brief Pain Inventory (BPI),

show abstract

Section: Discussionmentioning

confidence: 74%

Patient-Reported Outcomes in Subjects With A143T and R118C GLA Gene Variants

Neto

Bento

Pereira

2021

J. inborn errors metab. screen.

View full text Add to dashboard Cite

show abstract

“…Several genetic VUS are known in the GLA gene and are controversially discussed such as A143T and D313Y. While some studies report on cardiac involvement and reduced GLA activity in A143T [ 13 , 70 ], others did not observe FD-related organ involvement [ 57 , 64 ]. Similarly, D313Y was considered pathogenic due to reports of neurological and renal symptoms [ 16 , 76 ], while no organ manifestation was found in other studies [ 30 , 48 ].…”

Section: Discussionmentioning

confidence: 99%

In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease

Breyer,

Grüner,

Klein

et al. 2024

Molecular Genetics and Metabolism Reports

View full text Add to dashboard Cite

“…Later, Spada et al assumed the A143T genotype leads to late-onset end-stage nephropathy [33]. Since then, the variant has been classified as a later-onset pathogenic mutation [11,[34][35][36][37][38], including screening studies in stroke patients [39]. Biochemically, the variant carriers have been repeatedly shown to express decreased α-GAL A activity, both when assessed in vitro or/and in plasma or leucocytes analysis [11,34,35,[40][41][42].…”

Section: Discussionmentioning

confidence: 99%

Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic

Reková

Dostálová

Kemlink

et al. 2021

JCM

View full text Add to dashboard Cite

Fabry disease (FD) is a rare X-linked disorder of glycosphingolipid metabolism caused by pathogenic variants within the alpha-galactosidase A (GLA) gene, often leading to neurological manifestations including stroke. Multiple screening programs seeking GLA variants among stroke survivors lacked detailed phenotype description, making the interpretation of the detected variant’s pathogenicity difficult. Here, we describe detailed clinical characteristics of GLA variant carriers identified by a nationwide stroke screening program in the Czech Republic. A total of 23 individuals with 8 different GLA variants were included in the study. A comprehensive diagnostic workup was performed by a team of FD specialists. The investigation led to the suggestion of phenotype reclassification for the G325S mutation from late-onset to classical. A novel variant R30K was found and was classified as a variant of unknown significance (VUS). The typical manifestation in our FD patients was a stroke occurring in the posterior circulation with an accompanying pathological finding in the cerebrospinal fluid. Moreover, we confirmed that cornea verticillata is typically associated with classical variants. Our findings underline the importance of detailed phenotype description and data sharing in the correct identification of pathogenicity of gene variants detected by high-risk-population screening programs.

show abstract

A family with Fabry disease diagnosed by a single angiokeratoma

Cited by 9 publications

References 0 publications

Patient-Reported Outcomes in Subjects With A143T and R118C GLA Gene Variants

Patient-Reported Outcomes in Subjects With A143T and R118C GLA Gene Variants

In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease

Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic

Contact Info

Product

Resources

About