Newborn genetic screening for Fabry disease : Insights from a retrospective analysis in Nanjing, China
Copyright © 2024 Elsevier B.V. All rights reserved..
Fabry disease (FD), an X-linked disorder resulting from dysfunction of α-galactosidase A, can result in significant complications. Early intervention yields better outcomes, but misdiagnosis or delayed diagnosis is common, impacting prognosis. Thus, early detection is crucial in the clinical diagnosis and treatment of FD. While newborn screening for FD has been implemented in certain regions, challenges persist in enzyme activity detection techniques, particularly for female and late-onset patients. Further exploration of improved screening strategies is warranted. This study retrospectively analyzed genetic screening results for pathogenic GLA variants in 17,171 newborns. The results indicated an estimated incidence of FD in the Nanjing region of China of approximately 1 in 1321. The most prevalent pathogenic variant among potential FD patients was c.640-801G > A (46.15 %). Furthermore, the residual enzyme activity of the pathogenic variant c.911G > C was marginally higher than that of other variants, and suggesting that genetic screening may be more effective in identifying potential female and late-onset patients compared to enzyme activity testing. This research offers initial insights into the effectiveness of GLA genetic screening and serves as a reference for early diagnosis, treatment, and genetic counseling in FD.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:557 |
|---|---|
| Enthalten in: |
Clinica chimica acta; international journal of clinical chemistry - 557(2024) vom: 15. Apr., Seite 117889 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Sun, Yun [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
α-Gal A |
|---|
| Anmerkungen: |
Date Completed 15.04.2024 Date Revised 15.04.2024 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1016/j.cca.2024.117889 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM37021014X |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM37021014X | ||
| 003 | DE-627 | ||
| 005 | 20240415233545.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240328s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.cca.2024.117889 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1376.xml |
| 035 | |a (DE-627)NLM37021014X | ||
| 035 | |a (NLM)38531466 | ||
| 035 | |a (PII)S0009-8981(24)00130-X | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Sun, Yun |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Newborn genetic screening for Fabry disease |b Insights from a retrospective analysis in Nanjing, China |
| 264 | 1 | |c 2024 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 15.04.2024 | ||
| 500 | |a Date Revised 15.04.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2024 Elsevier B.V. All rights reserved. | ||
| 520 | |a Fabry disease (FD), an X-linked disorder resulting from dysfunction of α-galactosidase A, can result in significant complications. Early intervention yields better outcomes, but misdiagnosis or delayed diagnosis is common, impacting prognosis. Thus, early detection is crucial in the clinical diagnosis and treatment of FD. While newborn screening for FD has been implemented in certain regions, challenges persist in enzyme activity detection techniques, particularly for female and late-onset patients. Further exploration of improved screening strategies is warranted. This study retrospectively analyzed genetic screening results for pathogenic GLA variants in 17,171 newborns. The results indicated an estimated incidence of FD in the Nanjing region of China of approximately 1 in 1321. The most prevalent pathogenic variant among potential FD patients was c.640-801G > A (46.15 %). Furthermore, the residual enzyme activity of the pathogenic variant c.911G > C was marginally higher than that of other variants, and suggesting that genetic screening may be more effective in identifying potential female and late-onset patients compared to enzyme activity testing. This research offers initial insights into the effectiveness of GLA genetic screening and serves as a reference for early diagnosis, treatment, and genetic counseling in FD | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Fabry disease | |
| 650 | 4 | |a GLA | |
| 650 | 4 | |a genetic screening | |
| 650 | 4 | |a lysosomal storage disease | |
| 650 | 4 | |a α-Gal A | |
| 650 | 7 | |a alpha-Galactosidase |2 NLM | |
| 650 | 7 | |a EC 3.2.1.22 |2 NLM | |
| 700 | 1 | |a Guan, Xian-Wei |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Yan-Yun |e verfasserin |4 aut | |
| 700 | 1 | |a Hong, Dong-Yang |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Zhi-Lei |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Ya-Hong |e verfasserin |4 aut | |
| 700 | 1 | |a Yang, Pei-Ying |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Xin |e verfasserin |4 aut | |
| 700 | 1 | |a Jiang, Tao |e verfasserin |4 aut | |
| 700 | 1 | |a Chi, Xia |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Clinica chimica acta; international journal of clinical chemistry |d 1956 |g 557(2024) vom: 15. Apr., Seite 117889 |w (DE-627)NLM000002054 |x 1873-3492 |7 nnns |
| 773 | 1 | 8 | |g volume:557 |g year:2024 |g day:15 |g month:04 |g pages:117889 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1016/j.cca.2024.117889 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 557 |j 2024 |b 15 |c 04 |h 117889 | ||