Evidence map›Paper›PMID 39669624›Full record

ArticleGenetics in medicine open2024

Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations.

Joni C Sedillo, Chansonette Badduke, Steven J Schrodi, Vinod Scaria, Onur Emre Onat, Majid Alfadhel, Carole Ober, William Wentworth-Sheilds, Robert D Steiner, Julie D Saba

Abstract read
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In one paragraph

Article in Genetics in medicine open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Joni C SedilloDepartment of Medical Genetics, University of Wisconsin-Madison, Madison, WI.
Chansonette BaddukeDepartment of Pathology, University of California San Francisco, San Francisco, CA.
Steven J SchrodiDepartment of Medical Genetics, University of Wisconsin-Madison, Madison, WI.
Vinod ScariaCSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), South Campus, Mathura Road, New Delhi.
Onur Emre OnatBezmialem Vakif University, Institute of Health Sciences and Biotechnology, Department of Molecular Biology, Istanbul, Turkey.
Majid AlfadhelGenetics and Precision Medicine Department (GPM), King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Carole OberDepartment of Human Genetics, University of Chicago, Chicago, IL.
William Wentworth-SheildsDepartment of Human Genetics, University of Chicago, Chicago, IL.
Robert D SteinerDepartment of Pediatrics, University of Wisconsin-Madison, Madison, WI.
Julie D SabaDepartment of Pediatrics, University of California San Francisco, San Francisco, CA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is a rare, often fatal, metabolic disorder and monogenic form of steroid-resistant nephrotic syndrome. Other manifestations include primary adrenal insufficiency, ichthyosis, and neurological defects. SPLIS is caused by biallelic pathogenic variants in Methods: Using publicly available genomic data sets, including Genome Aggregation Database (gnomAD) v.2.1.1 and gnomAD v3.1.2, Iranome, IndiGen, and private genomic data sets from Israeli, Saudi, South Dakota Hutterite, and Turkish populations, we estimated SPLIS prevalence based on cumulative variant allele frequencies for high-confidence pathogenic variants. SPLIS prevalence estimates were adjusted by the level of inbreeding when the inbreeding coefficient was known. A Bayesian point estimate and 95% credible interval for worldwide SPLIS were calculated based on gnomAD v2.1.1 (GRCh37). Results: The SPLIS prevalence estimate based on the total number of samples included from gnomAD v.2.1.1 ( Conclusion: The estimated worldwide number of SPLIS individuals is 11,707. Individuals with East Asian, Finnish, Turkish, and Iranian ancestries have an especially high estimated prevalence.

Indexed as

Adrenal insufficiencyNephrotic syndromeSGPL1Sphingosine-1-phosphateSphingosine phosphate lyase insufficiency syndrome

Identifiers

PMID39669624
PMCPMC11613930

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.