PubTransformer

A site to transform Pubmed publications into these bibliographic reference formats: ADS, BibTeX, EndNote, ISI used by the Web of Knowledge, RIS, MEDLINE, Microsoft's Word 2007 XML.

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

Abstract Fabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. This study investigated the phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry disease using a nationwide survey.This study included 94 patients from 46 independent pedigrees: 38 adult males, 46 symptomatic females, and 10 pediatric males. Each diagnosis was based on an enzyme assay and GLA gene mutation analysis.The mean age at presentation was 24 years (range, 5-65 years); however, the diagnoses were delayed by 21 ± 19 years after the onset of symptoms. Those patients with late-onset Fabry disease were diagnosed by family screening or milder symptoms at a later age. Forty different mutations were identified: 20 missense (50%), 10 nonsense (25%), 8 frameshift (20%), and 2 splice site (5%) mutations. Five of them were novel. IVS4+919G>A (c.936+919 G>A) was not detected among the 6505 alleles via newborn screening using dried blood spots. Enzyme replacement therapy (ERT) was performed in all the males and pediatric patients, whereas 75% of the symptomatic females underwent ERT for 4.2 ± 3.6 years.This study described the demographic data, wide clinical spectrum of phenotypes, and GLA mutation spectrum of Fabry disease in Korea. Most of the patients had classical Fabry disease, with a 4 times higher incidence than that of late-onset Fabry disease, indicating an underdiagnosis of mild, late-onset Fabry disease.
PMID
Related Publications

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).

Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).

Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.

Authors

Mayor MeshTerms

Mutation

Keywords
Journal Title medicine
Publication Year Start




PMID- 28723748
OWN - NLM
STAT- MEDLINE
DA  - 20170720
DCOM- 20170728
LR  - 20170801
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 29
DP  - 2017 Jul
TI  - Clinical characteristics and mutation spectrum of GLA in Korean patients with
      Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
PG  - e7387
LID - 10.1097/MD.0000000000007387 [doi]
AB  - Fabry disease is a rare X-linked lysosomal storage disorder caused by an
      alpha-galactosidase A deficiency. The progressive accumulation of
      globotriaosylceramide (GL-3) results in life-threatening complications, including
      renal, cardiac, and cerebrovascular diseases. This study investigated the
      phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry
      disease using a nationwide survey.This study included 94 patients from 46
      independent pedigrees: 38 adult males, 46 symptomatic females, and 10 pediatric
      males. Each diagnosis was based on an enzyme assay and GLA gene mutation
      analysis.The mean age at presentation was 24 years (range, 5-65 years); however, 
      the diagnoses were delayed by 21 +/- 19 years after the onset of symptoms. Those 
      patients with late-onset Fabry disease were diagnosed by family screening or
      milder symptoms at a later age. Forty different mutations were identified: 20
      missense (50%), 10 nonsense (25%), 8 frameshift (20%), and 2 splice site (5%)
      mutations. Five of them were novel. IVS4+919G>A (c.936+919 G>A) was not detected 
      among the 6505 alleles via newborn screening using dried blood spots. Enzyme
      replacement therapy (ERT) was performed in all the males and pediatric patients, 
      whereas 75% of the symptomatic females underwent ERT for 4.2 +/- 3.6 years.This
      study described the demographic data, wide clinical spectrum of phenotypes, and
      GLA mutation spectrum of Fabry disease in Korea. Most of the patients had
      classical Fabry disease, with a 4 times higher incidence than that of late-onset 
      Fabry disease, indicating an underdiagnosis of mild, late-onset Fabry disease.
FAU - Choi, Jin-Ho
AU  - Choi JH
AD  - aDepartment of Pediatrics, Asan Medical Center Children's Hospital, University of
      Ulsan College of Medicine bAsan Institute for Life Sciences cMedical Genetics
      Center, Asan Medical Center Children's Hospital, Seoul dDepartment of Pediatrics,
      Pusan National University Children's Hospital eDepartment of Neurology, Pusan
      National University Yangsan Hospital, Pusan National University School of
      Medicine, Yangsan fDepartment of Pediatrics, Seoul National University Children's
      Hospital, Seoul gDepartment of Medical Genetics, Ajou University Hospital, Ajou
      University School of Medicine, Suwon hDepartment of Pediatrics, College of
      Medicine, Soonchunhyang University, Bucheon Hospital, Bucheon iDepartment of
      Pediatrics, College of Medicine, Soonchunhyang University, Seoul Hospital, Seoul 
      jDepartment of Pediatrics, Chonnam National University Hwasun Hospital, Hwasun
      kDepartment of Pediatrics, Chungnam National University Hospital, Daejeon
      lDepartment of Cardiology, Bucheon Sejong Hospital, Bucheon mDepartment of
      Cardiology, Kyung Hee University Hospital nDepartment of Cardiology, Yonsei
      University Severance Hospital oDepartment of Nephrology, Chung-Ang University
      Hospital pDepartment of Cardiology, Eulji University Hospital, Seoul qDepartment 
      of Nephrology, Kyungpook National University Hospital, Daegu rDivision of
      Nephrology, Department of Internal Medicine, Dankook University Hospital, Dankook
      University, College of Medicine, Cheonan sDepartment of Cardiology, Inje
      University Busan Paik Hospital, Busan, Republic of Korea.
FAU - Lee, Beom Hee
AU  - Lee BH
FAU - Heo, Sun Hee
AU  - Heo SH
FAU - Kim, Gu-Hwan
AU  - Kim GH
FAU - Kim, Yoo-Mi
AU  - Kim YM
FAU - Kim, Dae-Seong
AU  - Kim DS
FAU - Ko, Jung Min
AU  - Ko JM
FAU - Sohn, Young Bae
AU  - Sohn YB
FAU - Hong, Yong Hee
AU  - Hong YH
FAU - Lee, Dong-Hwan
AU  - Lee DH
FAU - Kook, Hoon
AU  - Kook H
FAU - Lim, Han Hyuk
AU  - Lim HH
FAU - Kim, Kyung Hee
AU  - Kim KH
FAU - Kim, Woo-Shik
AU  - Kim WS
FAU - Hong, Geu-Ru
AU  - Hong GR
FAU - Kim, Su-Hyun
AU  - Kim SH
FAU - Park, Sang Hyun
AU  - Park SH
FAU - Kim, Chan-Duck
AU  - Kim CD
FAU - Kim, So Mi
AU  - Kim SM
FAU - Seo, Jeong-Sook
AU  - Seo JS
FAU - Yoo, Han-Wook
AU  - Yoo HW
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - EC 3.2.1.22 (alpha-Galactosidase)
RN  - EC 3.2.1.22 (alpha-galactosidase A, human)
SB  - AIM
SB  - IM
MH  - Adolescent
MH  - Age of Onset
MH  - Aged
MH  - Child
MH  - Child, Preschool
MH  - Diagnostic Errors
MH  - Enzyme Replacement Therapy
MH  - Fabry Disease/diagnosis/drug therapy/*epidemiology/*genetics
MH  - Female
MH  - Genetic Association Studies
MH  - Humans
MH  - Incidence
MH  - Infant, Newborn
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Neonatal Screening
MH  - Phenotype
MH  - Republic of Korea/epidemiology
MH  - Surveys and Questionnaires
MH  - Treatment Outcome
MH  - Young Adult
MH  - alpha-Galactosidase/*genetics
PMC - PMC5521888
EDAT- 2017/07/21 06:00
MHDA- 2017/07/29 06:00
CRDT- 2017/07/21 06:00
AID - 10.1097/MD.0000000000007387 [doi]
AID - 00005792-201707210-00013 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Jul;96(29):e7387. doi: 10.1097/MD.0000000000007387.