A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review

2020 ◽  
Vol 42 (9) ◽  
pp. 1035-1040
Author(s):  
Minglan Yang ◽  
Ying Dong ◽  
Jianqing Tian ◽  
Li Yan ◽  
Yawen Chen ◽  
...  
Keyword(s):  
Literature Review ◽  
Gitelman Syndrome ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Slc12a3 Gene

scholarly journals A Case Report: Gitelman Syndrome or Bartter Syndrome?

2020 ◽  
Author(s):  
YuanBin WU ◽  
Jingjing Hu ◽  
Bo Wang ◽  
Dongxin Yang ◽  
Han Zheng ◽  
...  
Keyword(s):  
Bartter Syndrome ◽  
Gitelman Syndrome ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Slc12a3 Gene ◽  
Hypokalemic Alkalosis ◽  
Chinese Girl ◽  
History Of ◽  
Laboratory Examinations

Abstract Background: Gitelman syndrome (GS) is a rare autosomal recessive inherited tubular disease which is caused by mutation in the SLC12A3 gene. It is characterized by hypokalemic alkalosis with hypomagnesemia and hypocalciuria, and can cause serious complications such as arrhythmia, syncope, sudden death, etc. Bartter syndrome (BS) is similar to Gitelman syndrome in clinical and laboratory examinations. If lack of sufficient understanding of the disease, it is easy to cause misdiagnosis and missed diagnosis. Case presentation: A 6-year-old Chinese girl presented with history of hand and foot spasms and was diagnosed with hypokalemia. Although multiple symptomatic treatments of potassium supplementation was given, is the concentration of potassium was still at a low level. Gene analysis revealed that the presence of two heterozygous mutations, i.e. a missense mutation c.248G> A and a frameshift mutation c.2875_2876del, in the SLC12A3 gene.The child was diagnosed with Gitelman syndrome(GS) due to SLC12A3 compound heterozygous mutation. Through treatment, the level of ion metabolism in children remains stable. Conclusions: By reviewing its clinical characteristics and diagnosis and treatment ideas, we can help improve clinicians' understanding of children's GS.

A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review

2018 ◽  
Vol 39 (10) ◽  
pp. 1697-1703 ◽  
Author(s):  
Yuanfeng Zhang ◽  
Chunmei Wang ◽  
Kunfang Yang ◽  
Simei Wang ◽  
Guoli Tian ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous

scholarly journals Genotypic and phenotypic character of Chinese neonates with congenital protein C deficiency: a case report and literature review

2019 ◽  
Vol 17 (1) ◽  
Author(s):  
Xiaoying Li ◽  
Xiaoyan Li ◽  
Xiao Li ◽  
Yuanhua Zhuang ◽  
Lili Kang ◽  
...  
Keyword(s):  
Literature Review ◽  
Protein C ◽  
Molecular Genetic ◽  
Purpura Fulminans ◽  
Protein S ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Molecular Testing ◽  
Compound Heterozygous ◽  
Protein C Deficiency

Abstract Background Our objective was to study the phenotype of and molecular genetic mechanisms underlying congenital protein C (PC) deficiency in Chinese neonates. We report the case of a neonate who presented 4 h after birth with purpura fulminans of the skin and thrombosis in the kidney. We also carried out a through literature review to study the genotype and phenotype, relevance, diagnosis, management, and prognosis of neonates with congenital PC deficiency in China. Case presentation and literature review Following a septic work-up and check of PC and protein S (PS) levels that showed PC deficiency, we investigated the patient’s and her parents’ genotypes. Our patient was found to have a plasma PC level of 0.8%. Molecular testing revealed a compound heterozygous mutation of the PROC gene: From the father, a c._262 G > T p. ASP88Tyr mutation in exon 4; from the mother, a C. 400 + 5G mutation in intron 5 that had been previously reported as likely pathogenic. Both parents were found to have heterozygous mutations for PC deficiency. In China, 5 other cases of congenital PC deficiency in the neonatal period were reported in the literature. In those cases, purpura fulminans and thrombosis were the main symptoms, and homozygous or compound heterozygous mutations of the PROC gene were identified. Conclusion Congenital PC deficiency should be ruled out for neonates presenting with purpura fulminans and thrombosis.

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