Analysis of TRPM6 gene variant in a pedigree affected with hypocalcemia secondary to hypomagnesemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 805-808, 2019.
Article
в Zh
| WPRIM
| ID: wpr-776801
Ответственная библиотека:
WPRO
ABSTRACT
OBJECTIVE@#To explore the molecular pathogenesis for a pedigree affected with hypocalcemia secondary to hypomagnesemia.@*METHODS@#Sanger sequencing was used to detect potential variant of the TRPM6 gene in the patient and their parents.@*RESULTS@#The results showed that the patient has carried novel homozygous c.3311C>T (p.Pro1104Leu) variant of the TRMP6 gene, for which both of his parents were heterozygous carriers. Analysis of protein functions using software predicted high risk of pathogenicity.@*CONCLUSION@#The homozygous c.3311C>T (p.Pro1104Leu) variant of the TRPM6 gene probably underlies the disease in this patient.
Полный текст:
1
База данных:
WPRIM
Основная тема:
Pedigree
/
TRPM Cation Channels
/
Genetics
/
Heterozygote
/
Hypocalcemia
/
Magnesium
/
Magnesium Deficiency
Тип исследования:
Prognostic_studies
Пределы темы:
Humans
/
Male
Язык:
Zh
Журнал:
Chinese Journal of Medical Genetics
Год:
2019
Тип:
Article