ABCMdb

ABCG8 p.Ser107*

None has been submitted yet.

Publications

PMID: 12578886 [PubMed] Mymin D et al: "Image in cardiovascular medicine. Aortic xanthomatosis with coronary ostial occlusion in a child homozygous for a nonsense mutation in ABCG8."

No. Sentence Comment

17 However, a novel CϾG mutation was found at the second residue of codon nucleotide 107 in exon 3 of the ABCG8 gene, which predicted premature truncation of the protein product (S107X) (Figure 2). Login to comment
20 Serum cholesterol was 10.8, 11.8, and 9.2 mmol/L (416, 455, and 356 mg/dL), respectively, and serum sitosterol concentrations were 282, 447, and 184 mg/L, respectively (reference range 0 to 10 mg/L) in these relatives, who were also shown to be homozygotes for S107X. Login to comment
15 However, a novel CϾG mutation was found at the second residue of codon nucleotide 107 in exon 3 of the ABCG8 gene, which predicted premature truncation of the protein product (S107X) (Figure 2). Login to comment
18 Serum cholesterol was 10.8, 11.8, and 9.2 mmol/L (416, 455, and 356 mg/dL), respectively, and serum sitosterol concentrations were 282, 447, and 184 mg/L, respectively (reference range 0 to 10 mg/L) in these relatives, who were also shown to be homozygotes for S107X. Login to comment

PMID: 15375183 [PubMed] Wang J et al: "Phenotypic heterogeneity of sitosterolemia."

No. Sentence Comment

3 We report five Canadian subjects with nonsense mutations in these half-transporters: four related Caucasian subjects were homozygous for the ABCG8 S107X mutation, and one unrelated Japanese-Canadian subject was homozygous for a complex insertion/deletion (I/D) mutation in ABCG5 exon 3. Login to comment
4 A female subject with each mutation was symptomatic with coronary atherosclerosis: a 5-year-old ABCG8 S107X homozygote and a 75-year-old ABCG5 exon 3 I/D homozygote; these represent the extreme ends of the spectrum of vascular involvement in sitosterolemia. Login to comment
34 METHODS Study subjects Family 1: ABCG8 S107X subjects II-1 to II-4. Login to comment
87 RESULTS Clinical and biochemical attributes From the ABCG8 S107X kindred, subjects II-1 to II-4 each had high LDL-cholesterol and low HDL-cholesterol, with corresponding changes in apolipoprotein A-I (apoA-I) and apoB concentrations. Login to comment
102 Sequencing showed that the two younger siblings and the first cousin were also homozygous for the S107X mutation, whereas both parents were heterozygous. Login to comment
103 Additional sequence analyses showed that the ABCG8 S107X mutation was absent from the genomic DNA of 360 healthy Caucasians. Login to comment
108 Each of four Caucasian subjects with the ABCG8 S107X mutation, which encodes a protein that is truncated by ~80%, was ascertained under age 10 and had profound hyperlipidemia, with the index case showing marked skin manifestations and premature severe atherosclerosis with CHD. Login to comment
110 One subject with each mutation was symptomatic with coronary atherosclerosis: a 5 year old girl with the ABCG8 S107X mutation and a 75 year old woman with the ABCG5 exon 3 I/D mutation, who represent the extreme ends of the spectrum of vascular involvement in sitosterolemia. Login to comment
111 In the surviving ABGC8 S107X homozygotes, treatment with ezetimibe or bile acid sequestrants caused the largest reductions of plasma LDL cholesterol and sitosterol, whereas treatment with statin drugs was associated with less LDL-cholesterol reduction. Login to comment
123 Subjects ABCG8 S107X II-1 to II-4 demonstrated a certain degree of clinical and biochemical heterogeneity (Table 2), of which the most dramatic were the cardiac and skin manifestations in subject II-1. Login to comment
127 Interestingly, the parents of the proband, both of whom were heterozygotes for ABCG8 S107X, had some biochemical disparities. Login to comment
2 We report five Canadian subjects with nonsense mutations in these half-transporters: four related Caucasian subjects were homozygous for the ABCG8 S107X mutation, and one unrelated Japanese-Canadian subject was homozygous for a complex insertion/deletion (I/D) mutation in ABCG5 exon 3. Login to comment
32 METHODS Study subjects Family 1: ABCG8 S107X subjects II-1 to II-4. Login to comment
85 RESULTS Clinical and biochemical attributes From the ABCG8 S107X kindred, subjects II-1 to II-4 each had high LDL-cholesterol and low HDL-cholesterol, with corresponding changes in apolipoprotein A-I (apoA-I) and apoB concentrations. Login to comment
100 Sequencing showed that the two younger siblings and the first cousin were also homozygous for the S107X mutation, whereas both parents were heterozygous. Login to comment
101 Additional sequence analyses showed that the ABCG8 S107X mutation was absent from the genomic DNA of 360 healthy Caucasians. Login to comment
106 Each of four Caucasian subjects with the ABCG8 S107X mutation, which encodes a protein that is truncated by 80%, was ascertained under age 10 and had profound hyperlipidemia, with the index case showing marked skin manifestations and premature severe atherosclerosis with CHD. Login to comment
109 In the surviving ABGC8 S107X homozygotes, treatment with ezetimibe or bile acid sequestrants caused the largest reductions of plasma LDL cholesterol and sitosterol, whereas treatment with statin drugs was associated with less LDL-cholesterol reduction. Login to comment
121 Subjects ABCG8 S107X II-1 to II-4 demonstrated a certain degree of clinical and biochemical heterogeneity (Table 2), of which the most dramatic were the cardiac and skin manifestations in subject II-1. Login to comment
125 Interestingly, the parents of the proband, both of whom were heterozygotes for ABCG8 S107X, had some biochemical disparities. Login to comment

PMID: 22378727 [PubMed] Myrie SB et al: "Serum lipids, plant sterols, and cholesterol kinetic responses to plant sterol supplementation in phytosterolemia heterozygotes and control individuals."

No. Sentence Comment

2 Objective: This study assessed the responsiveness of circulating PS and lipid concentrations and cholesterol kinetics (absorption and synthesis) to daily PS supplementation in HET (ABCG8 S107X mutation) compared with a healthy control cohort. Login to comment
8 Conclusion: These data suggest that heterozygosity for the ABCG8 S107X mutation does not influence the action of dietary PS on circulating cholesterol concentrations but may affect sterol absorption. Login to comment
35 These volunteers were related to a proband reported by Mymin et al (17, 18) to have the ABCG8 S107X mutation. Login to comment
36 Thus, genotyping for the ABCG8 S107X mutation was used to identify phytosterolemia heterozygotes (HET; n = 10) and control subjects (control; n = 15). Login to comment
37 Individuals homozygous for the ABCG8 S107X mutation or with thyroid disease, diabetes mellitus, kidney disease, or liver disease were excluded from the study. Login to comment
173 In the current study, heterozygosity for the ABCG8 S107X mutation was found to be associated with increased plasma PS (campesterol+b-sitosterol) concentrations and lower lathosterol concentrations; however, using stable-isotope techniques we found no significant effects on cholesterol absorption or fractional synthesis in the HET group compared with the control group. Login to comment
174 In conclusion, the current work suggests that, although the ABCG8 S107X heterozygous mutation affected plasma PS concentrations, there seems to be a lack of effect of this mutation on cholesterol metabolism. Login to comment

PMID: 25444527 [PubMed] Othman RA et al: "Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia."

No. Sentence Comment

24 All patients were identified as having homozygous ABCG8 S107X mutation (NM_022437.2:c.320C>G) and are related to a proband previously reported by Mymin et al21,22 and Chong et al.23 All procedures involving human patients were approved by the University of Manitoba Biomedical Ethics board and written informed consent was obtained from all patients. Login to comment