Evidence map›Paper›PMID 41253761›Full record

ArticleHuman genome variation2025

A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family.

Asad Munir, Helen Nabiryo Frederiksen, Fawad Ali, Sabawoon Shah, Abdur Rashid, Sergey Oreshkov, Kashif Khan, Muhammad Shahzeb, Inam Ullah, Hamid Ur Rahman and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

13 authors.

Asad Munir *Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan.ORCID http://orcid.org/0000-0001-5461-3599
Helen Nabiryo Frederiksen *Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.
Fawad AliDepartment of Neurology, Saidu Group of Teaching Hospital, Saidu Sharif, Swat, Pakistan.
Sabawoon ShahDepartment of Medicine, Luqman International Hospital, Swat, Pakistan.
Abdur RashidDepartment of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.
Sergey OreshkovDepartment of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.
Kashif KhanDepartment of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan.
Muhammad ShahzebDepartment of Medical Laboratory Technology, Kohat University of Science and Technology, Kohat, Pakistan.
Inam UllahDepartment of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan.
Hamid Ur RahmanDepartment of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan.ORCID http://orcid.org/0000-0001-9469-8689
Mukhtar UllahDepartment of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.
Muhammad Ansar *Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland. muhammad.ansar@fa2.ch.
Atta Ur Rehman *Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan. atta.rehman@hu.edu.pk.ORCID http://orcid.org/0000-0002-5591-1835

Funding

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (Swiss National Science Foundation) 320030_212959
6 · The paper itself

Abstract

Hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) is a rare autosomal recessive neurological disorder that affects fewer than 1 in 1,000,000 individuals worldwide and is characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired motor development and autonomic abnormalities with highly variable age of onset and severity. Here we report a novel homozygous DST variant in association with HSAN-VI in two Pakistani siblings.

Identifiers

PMID41253761
PMCPMC12627412

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.