13 April 2023: Articles
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up
Rare disease
Satoshi Ekuni * , Kei Hirayama * , Miwako Nagasaka A* , Keita Osumi B , Hidehito Kondo B , Erina Nakahara C , Keiko Shimojima Yamamoto C , Hitoshi Kanno C , Yoshinori Katayama DDOI: 10.12659/AJCR.938396
Am J Case Rep 2023; 24:e938396
Table 1. Results of in silico predictive algorithms for variants in the present case. Multiple lines of computational analysis showed supportive data of deleterious effects on the gene or gene product.
| Gene | Position (GRCh37) | Substitution | Amino acid change | Inherited | dbSNP | SIFT | PolyPhen-2 | CADD | M-CAP |
|---|---|---|---|---|---|---|---|---|---|
| Chr20; 33530352 | 430G>A | Glu144Lys | Mother | rs140328832 | 0 (deleterious) | 0.998 (probably damaging) | 32 | 0.312 (possibly pathogenic) | |
| chr20; 33523408 | 805G>A | Gly269Ser | Father | 0 (deleterious) | 0.991 (probably damaging) | 32 | 0.237 (possibly pathogenic) | ||
| – ; CADD – Combined Annotation Dependent Depletion score is a tool for scoring the deleteriousness of single nucleotide variants in the human genome; M-CAP – Mendelian Clinically Applicable Pathogenicity score is the pathogenicity classifier for rare missense variants in the human genome. | |||||||||