Evidence map›Paper›PMID 41974659›Full record

ArticleHuman genome variation2026

Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot.

Sheetal Kumar, Sohail Ahmed, Pietro Incardona, Nicole Cesarato, Yue Zhang, Monica Ines Natale, Muhammad Javed Khan, Laura Valinotto, Kifayat Ullah, Wasim Ahmad and 4 more

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In one paragraph

Article in Human genome variation, 2026. 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

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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

14 authors.

Sheetal KumarInstitute of Human Genetics, Medical Faculty, University Hospital Bonn, University of Bonn, Bonn, Germany.
Sohail AhmedInstitute of Human Genetics, Medical Faculty, University Hospital Bonn, University of Bonn, Bonn, Germany.
Pietro IncardonaInstitute for Genomic Statistics and Bioinformatics, Medical Faculty, University Hospital Bonn, University of Bonn, Bonn, Germany.
Nicole CesaratoInstitute of Human Genetics, Medical Faculty, University Hospital Bonn, University of Bonn, Bonn, Germany.
Yue ZhangDepartment of Clinical Laboratory, The First Affiliated Hospital, Anhui Medical University, Hefei, China.
Monica Ines NataleCenter for Research in Genodermatosis and Epidermolysis Bullosa, School of Medicine, University of Buenos Aires, Buenos Aires, Argentina.
Muhammad Javed KhanInstitute of Biochemistry, University of Balochistan, Quetta, Pakistan.
Laura ValinottoConsejo nacional de investigaciones científicas y tecnicas, Buenos Aires, Argentina.ORCID http://orcid.org/0000-0001-8723-5483
Kifayat UllahDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Wasim AhmadDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Ines IrurzunUnidad de Dermatología, Hospital de Niños Dr. Ricardo Gutiérrez, Buenos Aires, Argentina.
Peter M KrawitzInstitute for Genomic Statistics and Bioinformatics, Medical Faculty, University Hospital Bonn, University of Bonn, Bonn, Germany.
Bo LiangDepartment of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Regina C BetzInstitute of Human Genetics, Medical Faculty, University Hospital Bonn, University of Bonn, Bonn, Germany. regina.betz@uni-bonn.de.ORCID http://orcid.org/0000-0001-5024-3623

Funding

Deutsche Forschungsgemeinschaft (German Research Foundation) 390873048
6 · The paper itself

Abstract

Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome type I is a rare, X-linked disorder resulting from pathogenic variants in MBTPS2. Here we report a Pakistani IFAP pedigree of three affected individuals harboring the recurrent MBTPS2 splice-site variant c.970+5G>A that was reported previously in Chinese and Argentinian families. Haplotype analyses across these three families excluded a founder effect, establishing c.970+5G>A as a recurrent mutational hotspot. In addition, phenotypic severity varied across the families, suggesting additional modifiers.

Identifiers

PMID41974659
PMCPMC13087023

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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.