ABCMdb

ABCG5 p.Arg446*

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Publications

PMID: 20521169 [PubMed] Niu DM et al: "Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children."

No. Sentence Comment

1 We report clinical, biochemical, and molecular genetic observations and treatment outcomes for five Chinese children from four separate families presenting with sitosterolemia in whom we identified two new (Y329X, G269R) and three known (R446X, N437K, R389H) mutations in the ABCG5 gene. Login to comment
23 Large peaks of serum plant sterols were identified by nuclear magnetic resonance (NMR) spectroscopy, but the exact concentrations of these sterols were unable to be Table 1 Baseline lipid profiles, liver enzymes, and blood cell counts of each study patient Patient no Normal values 1 2 3 4 5 Age at diagnosis 8 years 18 months 3 months 23 months 12 years Mutation (ABCG5) Y329X R389H R389H R389H R389H N437K R446X R446X R389H G269R Initial diagnostic data Cholesterol, mg/dl Total 125-240 427 705 402 640 343 Low-density-lipoprotein 60-150 346 565 304 519 263 High-density-lipoprotein 35-84 59 64 42 64 50 Total triglycerides, mg/dl 20-200 111 149 395a 98 98 Liver enzymes Alanine transaminase, U/l 5-45 10 13 45 15 44 Aspartate aminotransferase, U/l 15-55 19 31 100 31 37 Blood count Erythrocytes, count/µl 3.7×109 -5.3×109 3.35×109 4.25×109 3.98×109 4.49×109 4.46×109 Hemoglobin, g/dl 11.5-15.5 9.8 11.8 11 12.7 12.9 Mean corpuscular volume, fl 80-95 88.5 89.0 80.6 80.2 86 White blood cells, count/µl 4,500-17,500 7,200 6,900 6,700 11,200 5,200 Platelets, count/mm3 150×106 -350×106 211×106 289×106 506×106 566×106 293×106 After ezetimibe therapy Age at plant sterols analysis NA 5 years 3 years 3 year 13 year Duration of ezetimibe treatment NA 3 years 1 year 1 year 6 months Cholesterol, total (mg/dl) 125-240 NA 181 208 223 193 Sitosterol mg/dlb 0.216±0.220 (SD)c NA 7.10 9.17 7.07 6.14 Campesterol mg/dlb 0.309±0.165 (SD)c NA 3.79 4.78 4.04 4.22 NA not available a In the nonfasting state b Plant sterols were measured by gas chromatography/mass spectrometry, as previously described (Kwiterovich et al. 2003). Login to comment
79 Patients 2 and 3 also had compound heterozygous mutations (R389H and R446X). Login to comment
82 R446X (c.1336C>T), located at exon 10, substituted an arginine codon for a stop codon at codon 446. Login to comment

PMID: 20719861 [PubMed] Rios J et al: "Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia."

No. Sentence Comment

7 One gene, ABCG5, had two nonsense mutations (Q16X and R446X). Login to comment
65 A single gene, ABCG5, contained two different nonsense mutations: Q16X and R446X (Fig. 2B). Login to comment
66 Sanger sequencing confirmed both mutations in the proband and that her mother and father were heterozygotes for the Q16X and R446X mutations, respectively (data not shown). Login to comment
68 The ABCG5-R446X mutation was observed in a 10-year-old girl with sitosterolemia (21), whereas the Q16X mutation has not been reported previously. Login to comment

PMID: 22297561 [PubMed] Wang G et al: "Macrothrombocytopenia/Stomatocytosis specially associated with phytosterolemia."

No. Sentence Comment

68 The proband of family A was a homozygote for a C20896T nonsense mutation (R446X) which had been discovered.13 The 4 patients of family C were compound heterozygous for C20896T (R446X) and A20883G. Login to comment
67 The proband of family A was a homozygote for a C20896T nonsense mutation (R446X) which had been discovered.13 The 4 patients of family C were compound heterozygous for C20896T (R446X) and A20883G. Login to comment

PMID: 19111681 [PubMed] Togo M et al: "Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases."

No. Sentence Comment

6 The second patient was a compound heterozygote; one of the mutations was the same as that found in the first patient, while the other mutation was a C to T substitution in exon 10, resulting in a premature termination at codon 446 (R446X). Login to comment