Evidence map›Paper›PMID 36292628›Full record

ArticleGenes2022

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.

Saima Ghafoor, Karina da Costa Silveira, Raheel Qamar, Maleeha Azam, Peter Kannu

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2022. 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
0.4field-weighted citation impact, top 41% of its field
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, 3 citations in OpenAlex.

  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

5 authors at 3 institutions in 2 countries.

Saima GhafoorTranslational Genomics Laboratory, COMSATS University Islamabad, Islamabad 45550, Pakistan.
Karina da Costa SilveiraDepartment of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.ORCID 0000-0001-9114-9481
Raheel QamarPakistan Academy of Sciences, Islamabad 44000, Pakistan.
Maleeha AzamTranslational Genomics Laboratory, COMSATS University Islamabad, Islamabad 45550, Pakistan.
Peter KannuDepartment of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.ORCID 0000-0001-9479-4232
COMSATS University Islamabad · PKUniversity of Alberta · CAPakistan Academy of Sciences · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mucopolysaccharidoses (MPS) type IVA is a lysosomal storage disease that mainly affects the skeletal system and is caused by a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). The condition can mistakenly be diagnosed as a primary skeletal dysplasia such as spondylo-epiphyseal dysplasia, which shares many similar phenotypic features. Here, we utilised whole exome sequencing to make the diagnosis of MPS IVA in a resource poor country. We report for the first time the identification of a biallelic GALNS missense variant (c.697G>A, p.Asp233Asn) in the Pakistani population and highlight the potential contribution that academic institutions can make in rare disease diagnosis in the absence of a developed clinical genetic service.

Indexed as

ChondroitinsulfatasesMucopolysaccharidosis IVAcetylgalactosamineConsanguinityExomeExome SequencingHumansMutationPakistanAcetylgalactosamineChondroitinsulfatasesGALNS protein, humanGALNShomozygous mutationmucopolysaccharidosis type IVAPakistani consanguineous family

Identifiers

PMID36292628
PMCPMC9602411
OpenAlexW4297348680

What OpenQuestion holds

Textmetadata
LicenceCC BY
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 OpenQuestion graph.