PMID- 32522903
OWN - NLM
STAT- MEDLINE
DCOM- 20201207
LR  - 20221207
IS  - 1347-4820 (Electronic)
IS  - 1346-9843 (Linking)
VI  - 84
IP  - 7
DP  - 2020 Jun 25
TI  - NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication 
      and Chronic Limb-Threatening Ischemia.
PG  - 1183-1188
LID - 10.1253/circj.CJ-20-0153 [doi]
AB  - BACKGROUND: NT5Egenetic mutations are known to result in calcification of joints 
      and arteries (CALJA), and worldwide, 14 patients from 7 families have been 
      reported.Methods and Results:A total of 5 patients from 2 independent families 
      with CALJA were found in Japan. Of them, 3 complained of intermittent 
      claudication (IC), and 1 suffered from bilateral chronic limb-threatening 
      ischemia (CLTI). Whole-exome sequencing analysis revealed an identical mutation 
      pattern (c.G3C on the exon 1 start codon) that was unique compared 
      withNT5Emutations reported in other countries. CONCLUSIONS: Vascular specialists 
      need to recognize CALJA as a rare cause of ischemic IC and CLTI.
FAU - Azuma, Nobuyoshi
AU  - Azuma N
AD  - Department of Vascular Surgery, Asahikawa Medical University.
FAU - Uchida, Tetsuro
AU  - Uchida T
AD  - Division of Cardiovascular Surgery, Department of Surgery II, Yamagata 
      University.
FAU - Kikuchi, Shinsuke
AU  - Kikuchi S
AD  - Department of Vascular Surgery, Asahikawa Medical University.
FAU - Sadahiro, Mitsuaki
AU  - Sadahiro M
AD  - Division of Cardiovascular Surgery, Department of Surgery II, Yamagata 
      University.
FAU - Shintani, Tsunehiro
AU  - Shintani T
AD  - Department of Vascular Surgery, Shizuoka Red Cross Hospital.
FAU - Yanagi, Kumiko
AU  - Yanagi K
AD  - Department of Genome Medicine, National Center for Child Health and Development.
FAU - Higashita, Ryuji
AU  - Higashita R
AD  - Department of Cardiovascular Surgery, Yokohama General Hospital.
FAU - Yamashita, Atsushi
AU  - Yamashita A
AD  - Division of Cardiovascular Surgery, Department of Surgery II, Yamagata 
      University.
FAU - Makita, Yoshio
AU  - Makita Y
AD  - Education Center, Asahikawa Medical University.
FAU - Kaname, Tadashi
AU  - Kaname T
AD  - Department of Genome Medicine, National Center for Child Health and Development.
LA  - eng
PT  - Journal Article
DEP - 20200611
PL  - Japan
TA  - Circ J
JT  - Circulation journal : official journal of the Japanese Circulation Society
JID - 101137683
RN  - 0 (GPI-Linked Proteins)
RN  - EC 3.1.3.5 (5'-Nucleotidase)
RN  - EC 3.1.3.5 (NT5E protein, human)
RN  - Calcification of Joints and Arteries
SB  - IM
MH  - 5'-Nucleotidase/*genetics
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Calcinosis/diagnosis/enzymology/*genetics
MH  - Chronic Disease
MH  - Exons
MH  - Female
MH  - GPI-Linked Proteins/genetics
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - Intermittent Claudication/diagnosis/enzymology/*genetics
MH  - Ischemia/diagnosis/enzymology/*genetics
MH  - Joint Diseases/diagnosis/enzymology/*genetics
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Phenotype
MH  - Vascular Calcification/diagnostic imaging/enzymology/*genetics
MH  - Vascular Diseases/diagnosis/enzymology/*genetics
MH  - Exome Sequencing
OTO - NOTNLM
OT  - Calcification of joints and arteries
OT  - Chronic limb-threatening ischemia
OT  - Intermittent claudication
OT  - NT5E gene
OT  - Peripheral artery calcification
EDAT- 2020/06/12 06:00
MHDA- 2020/12/15 06:00
CRDT- 2020/06/12 06:00
PHST- 2020/06/12 06:00 [pubmed]
PHST- 2020/12/15 06:00 [medline]
PHST- 2020/06/12 06:00 [entrez]
AID - 10.1253/circj.CJ-20-0153 [doi]
PST - ppublish
SO  - Circ J. 2020 Jun 25;84(7):1183-1188. doi: 10.1253/circj.CJ-20-0153. Epub 2020 Jun 
      11.