Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Centre de Genetique Humaine, |
RCV002277753 | SCV002558699 | likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger) | 2022-07-04 | criteria provided, single submitter | clinical testing | Nonsense variant in a gene where LOF is a known mechanism of disease. Not present in GnomAD. Reported in PMID: 19877282 in heterozygous state in a patient with ZSD. This variant is targeted by nonsense-mediated mRNA decay (NMD) as shown by RNA analysis on patient's skin fibroblast. Inherited from the patient's mother. The patient is compound heterozygous for this variant and c.929C>T p.(Ser310Leu) in PEX6 gene (see this variant for more information). Patient's biochemical profile: ON PLASMA SAMPLE: - VLCFA: C26:0 is elevated, C26/C22 ratio is elevated - Phytanic acid: elevated - Pristanic acid: elevated - Pipecolic acid: 40x the upper limit of the normal ON URINE SAMPLE: - Organic acid profile: epoxy-dicarboxylic derivatives, 2-hydroxy-sébacate, 3-hydroxy-sebacate, pimelate and azelaate, compatible with PBD ON RED BLOOD CELL SAMPLE: - Plasmalogens: C16:0 DMA/C16:0 is decreased Patient's biochemical profile: ON PLASMA SAMPLE: - VLCFA: C26:0 is elevated, C26/C22 ratio is elevated - Phytanic acid: elevated - Pristanic acid: elevated - Pipecolic acid: 40x the upper limit of the normal ON URINE SAMPLE: - Organic acid profile: epoxy-dicarboxylic derivatives, 2-hydroxy-sébacate, 3-hydroxy-sebacate, pimelate and azelaate, compatible with PBD ON RED BLOOD CELL SAMPLE: - Plasmalogens: C16:0 DMA/C16:0 is decreased ON SKIN FIBROBLASTS : - Catalase IF showed import deficiency at 37°C (partially restored at 30°C) - 16:0_22:6GEtn : decreased levels - 16:0_20:6GEtn : decreased levels |