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| Proteinuric renal disease v6.9 | ISCA-37417-Loss | Eleanor Williams Phenotypes for Region: ISCA-37417-Loss were changed from Ichthyosis, X-linked, OMIM:308100 to Ichthyosis, X-linked, OMIM:308100; ichthyosis, MONDO:0019269 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v6.8 | STS | Ida Ertmanska changed review comment from: Comment on list classification: There are more than 3 unrelated individuals reported with renal disease (CAKUT, nephrotic syndrome, proteinuria) and deletions that encompass the STS gene. However, these structural variants would not be detected in the current NGS analysis pipeline. SNVs have been reported in this gene (about 10% of cases), but the individuals did not have renal disease. Hence, STS should remain Amber for Proteinuric renal disease. ; to: Comment on list classification: There are more than 3 unrelated individuals reported with renal disease (CAKUT, nephrotic syndrome, proteinuria) and deletions that encompass the STS gene. However, these structural variants would not be detected in the current NGS analysis pipeline. SNVs have been reported in this gene (about 10% of cases), but the individuals did not have renal disease. Hence, STS should remain Amber for Proteinuric renal disease. Instead, the ISCA-37417-Loss (Xp22.31 recurrent region (includes STS) Loss) has been suggested for promotion to Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v6.8 | ISCA-37417-Loss | Ida Ertmanska Classified Region: ISCA-37417-Loss as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v6.8 | ISCA-37417-Loss | Ida Ertmanska Added comment: Comment on list classification: There are at least 3 unrelated male individuals with ichthyosis and renal disease including proteinuria, harbouring heterozygous deletions affecting the ISCA-37417-Loss region (particularly full STS deletions). Hence, this region should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v6.8 | ISCA-37417-Loss | Ida Ertmanska Region: isca-37417-loss has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v6.7 | ISCA-37417-Loss |
Ida Ertmanska Region: ISCA-37417-Loss was added Region: ISCA-37417-Loss was added to Proteinuric renal disease. Sources: Literature Q3_26_expert_review, Q3_26_promote_green tags were added to Region: ISCA-37417-Loss. Mode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for Region: ISCA-37417-Loss were set to 17468528; 22419362; 23939749; 29672931; 35115028 Phenotypes for Region: ISCA-37417-Loss were set to Ichthyosis, X-linked, OMIM:308100 Review for Region: ISCA-37417-Loss was set to GREEN Added comment: PMID: 17468528 Krishnamurthy, Kapoor, and Yadav, 2007 Reported a 4yo proband with ichthyosis and a steroid-resistant nephrotic syndrome. Generalised edema and proteinuria of 4.25g/day were noted. Many male family members also had ichthyosis. Renal biopsy showed no segmental sclerosis, tubular atrophy, fibrosis, or deposits; diagnosed with minimal change disease. STS deletion detected by multiplex PCR (targeted STS gene specifically). PMID: 22419362 Mishra et al., 2012 Report of a 4yo boy with steroid-resistant nephrotic syndrome (SRNS) with an underlying ichthyotic skin present since birth. Genetic analysis showed full deletion of the STS gene. PMID: 23939749 Song et al., 2013 12yo male patient with X-linked ichthyosis (XLI) in association with glomerular sclerosis. Complete deletion of STS and flanking regions was detected. Renal features: renal failure, anemia, hypocalcemia, mild proteinuria (0.4g/day). Uncles also affected by ichthyosis and short stature. Authors highlight that it is unknown whether STS or the flanking regions were causal in the renal presentation. PMID: 29672931 Diociaiuti et al., 2019 Cohort of 35 Italian male patients with X-linked ichthyosis. 27 patients showed complete STS deletion - 1 de novo, others maternally inherited. 7 patients had microdeletions of 1.3-1.6Mb, and 2 patients had large deletions of 8.2 and 9.7Mb - resulting in contiguous gene syndrome. Lastly, 7 individuals from 4 unrelated families had 4 different missense mutations in STS. Seq method: MLPA + ichthyosis NGS panel. Apart from cutaneous changes, other findings included cryptorchidism, neuropsychiatric findings, motor disabilities. No mention of renal disease. Authors note that only 10% of patients have point mutations in STS, with majority of cases harbouring STS deletions. PMID: 35115028 Schierz et al., 2022 Male newborn with CAKUT with kidney failure and progressive vomiting. "Comparative whole-genome hybridization detected a maternal inherited interstitial deletion of 1.56 Mb on Xp22.31(6,552,712_8,115,153) × 0 involving the STS gene, but not the KAL1 gene." Other affected genes: VCX, PUDP, PNPLA4, as well as microRNAs MIR4767 and MIR651. Sources: Literature |
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