scholarly journals Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Mohamed Aashiq ◽  
Asma Jassim Malallah ◽  
Farheen Khan ◽  
Maryam Alsada
Keyword(s):  
Clinical Features ◽  
Protein Complex ◽  
Heterozygous Mutation ◽  
Missense Mutations ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Related Protein ◽  
Benign Condition ◽  
Sigma 1 ◽  
Type 3 ◽  
Biochemical Features

Familial hypocalciuric hypercalcemia (FHH) is usually a benign condition divided into three types. FHH-3 occurs in about 20% of the cases and is caused due to missense mutations in AP2S1 (adaptor-related protein complex 2 subunit sigma 1) involving the codon Arg15 (p.R15). We report a case of FHH-3 with a heterozygous mutation in the AP2S1 gene on chr19_47349359 C>T, c.44G>A, p.Arg15His. There are a handful of reports describing the clinical features in patients diagnosed with FHH-3. Herein, we describe the laboratory and clinical features associated with a case of FHH-3 with mutation in the Arg15His codon of the AP2S1 gene.

scholarly journals Over-expression of adaptor related protein complex 1 sigma 1 subunit in human endometrial cancer.

2021 ◽  
Author(s):  
Shahan Mamoor
Keyword(s):  
Endometrial Cancer ◽  
Protein Complex ◽  
Clinical Problem ◽  
Related Protein ◽  
Normal Endometrium ◽  
Over Expression ◽  
Tumor Tissues ◽  
Endometrial Tumor ◽  
Sigma 1 ◽  
Tumor Expression

Gynecologic cancers including cancers of the endometrium are a clinical problem (1-4). We mined published microarray data (5, 6) to discover genes associated with endometrial cancers by comparing transcriptomes of the normal endometrium and endometrial tumors from humans. We identified adaptor related protein complex 1 sigma 1 subunit, encoded by AP1S1, as among the most differentially expressed genes, transcriptome-wide, in cancers of the endometrium. AP1S1 was expressed at significantly higher levels in endometrial tumor tissues as compared to the endometrium. Importantly, primary tumor expression of AP1S1 was correlated with overall survival in patients with endometrial cancer. AP1S1 may be a molecule of interest in understanding the etiology or progression of human endometrial cancer.

scholarly journals Differential expression of adaptor related protein complex 2 sigma 1 subunit in human epithelial ovarian cancer.

2021 ◽  
Author(s):  
Shahan Mamoor
Keyword(s):  
Ovarian Cancer ◽  
Epithelial Ovarian Cancer ◽  
Fallopian Tube ◽  
Protein Complex ◽  
Expression Profiles ◽  
High Grade ◽  
Related Protein ◽  
Primary Tumors ◽  
Ovarian Cancers ◽  
Sigma 1

Epithelial ovarian cancer (EOC) is the most lethal gynecologic cancer (1). We performed discovery of genes associated with epithelial ovarian cancer and of the high-grade serous ovarian cancer (HGSC) subtype, using published microarray data (2, 3) to compare global gene expression profiles of normal ovary or fallopian tube with that of primary tumors from women diagnosed with epithelial ovarian cancer or HGSC. We identified the gene encoding adaptor related protein complex 2 sigma 1 subunit, AP2S1, as among the genes whose expression was most different in epithelial ovarian cancer as compared to the normal fallopian tube. AP2S1 expression was significantly higher in high-grade serous ovarian tumors relative to normal fallopian tube. AP2S1 expression correlated with overall survival in patients with ovarian cancer. These data indicate that expression of AP2S1 is perturbed in epithelial ovarian cancers broadly and in ovarian cancers of the HGSC subtype. AP2S1 may be relevant to pathways underlying ovarian cancer initiation (transformation) or progression.

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Point Mutations ◽  
Japanese Patients ◽  
Von Willebrand Disease ◽  
Homozygous Mutation ◽  
Missense Mutations ◽  
Reaction Products ◽  
Type 3 ◽  
Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

About a case of familial hypocalciuric hypercalcemia (FHH) type 3 with neurological involvement

2019 ◽  
Author(s):  
Guechot Helene Hoth ◽  
Florence Kohler ◽  
Linda Humbert ◽  
Maxime Kwapich ◽  
Odou Marie Francoise ◽  
...  
Keyword(s):  
Neurological Involvement ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Type 3

scholarly journals A Novel Compound Heterozygous Mutation in ABCB4 Gene Leading to Cholelithiasis, Progressive Familial Intrahepatic Cholestasis (Type 3), and Cirrhosis in a Child

2020 ◽  
Vol 10 (01) ◽  
pp. e134-e136
Author(s):  
Nida Mirza ◽  
Smita Malhotra ◽  
Anupam Sibal
Keyword(s):  
Intrahepatic Cholestasis ◽  
Gall Stone ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Initial Symptom ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Presenting Symptoms ◽  
Abcb4 Gene ◽  
Type 3

AbstractProgressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive disorders of childhood which presents with intermittent or progressive episodes of cholestasis, with jaundice and pruritus as most common presenting symptoms. PFIC type 3 occurs due to mutations in the ABCB4 gene, mutation in this gene has wide spectrum of features which include intrahepatic stones, cholelithiasis, PFIC type 3, and intrahepatic cholestasis of pregnancy. Here, we are reporting a peculiar case of young male adolescent with novel variant compound heterozygote missense mutation in ABCB4 gene who had gall stone as initial symptom, followed by symptoms of PFIC and eventually decompensated chronic liver disease.

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