Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1368-1370, 2020.
Article
in Zh
| WPRIM
| ID: wpr-879501
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To detect pathological variants of the SLC12A3 gene in a Chinese pedigree affected with Gitelman syndrome (GS).@*METHODS@#Clinical data and peripheral blood samples of the proband and his family members were collected. All exons of the SLC12A3 gene were amplified by PCR and subjected to Sanger sequencing.@*RESULTS@#Sanger sequencing has revealed that the proband has carried a c.486_489 delTACG (p.Ile162Met fs*8) deletion and a heterozygous c.2890C>T (p.Arg964Trp) missense variant in the SLC12A3 gene. Neither variant was reported previously and was not found among healthy controls.@*CONCLUSION@#The c.486_489delTACG (p.Ile162Met fs*8) and c.2890C>T (p.Arg964Trp) variants of the SLC12A3 gene probably underlay the GS in the proband. Above discovery has enriched the variant spectrum of GS.
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
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China
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Gitelman Syndrome
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Solute Carrier Family 12, Member 3
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Heterozygote
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Mutation
Type of study:
Diagnostic_studies
Limits:
Humans
Country/Region as subject:
Asia
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article