Evidence map›Paper›PMID 37492299›Full record

ArticlePakistan journal of medical sciences

Lipoid Proteinosis: Identification of a Novel Nonsense Mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh.

Md Azraf Hossain Khan, Md Abu Reza, Ibrahim Md Sharaf, Md Jahangir Alam, Md Mostafizur Rahman, Pampa Chandra, Kazi Selim Anwar, Md Abdus Salam

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In one paragraph

Article in Pakistan journal of medical sciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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, 0 citations in OpenAlex.

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

8 authors at 2 institutions in 2 countries.

Md Azraf Hossain KhanProf. Md. Azraf Hossain Khan, DDV, MCPS Department of Dermatology & Venereology, Rajshahi Medical College Hospital, Rajshahi, Bangladesh.
Md Abu RezaProf. Md. Abu Reza, PhD Molecular Biology and Protein Science Lab, Department of Genetic Engineering and Biotechnology, University of Rajshahi, Rajshahi, Bangladesh.
Ibrahim Md SharafIbrahim Md. Sharaf, DDV, MCPS;Medical Officer Department of Dermatology & Venereology, Rajshahi Medical College Hospital, Rajshahi, Bangladesh.
Md Jahangir AlamMd. Jahangir Alam, MS Molecular Biology and Protein Science Lab, Department of Genetic Engineering and Biotechnology, University of Rajshahi, Rajshahi, Bangladesh.
Md Mostafizur RahmanMd. Mostafizur Rahman, FCPS Assistant Professor Department of Dermatology & Venereology, Rajshahi Medical College Hospital, Rajshahi, Bangladesh.
Pampa ChandraPampa Chandra, FCPS Medical Officer Department of Dermatology & Venereology, Rajshahi Medical College Hospital, Rajshahi, Bangladesh.
Kazi Selim AnwarKazi Selim Anwar, M.Phil. Head of Research Unit, Ad-din Research Unit (ARU), Ad-din Women's Medical College, Bara Maghbazar, Dhaka, Bangladesh.
Md Abdus SalamProf. Md. Abdus Salam, PhD, FRCP (UK) Department of Basic Medical Sciences, Faculty of Medicine, International Islamic University Malaysia.
Rajshahi Medical College · BDInternational Islamic University Malaysia · MY

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Lipoid proteinosis is a rare multisystem genodermatosis inherited as autosomal recessive trait. We report a case of lipoid proteinosis in a 10-year-old boy born to first-degree consanguineous parents presented with marked hoarseness of voice, accelerated photoaging appearance, enlarged and erythematous tongue with restricted movement and widespread dermatoses. Biopsy of oral mucosa revealed Periodic acid-Schiff (PAS)-positive amorphous eosinophilic hyaline deposits. Mutational analysis revealed a homozygous nonsense mutation with C to T substitution at nucleotide position 1246(c.1246C>T) in exon-8 of the extracellular matrix protein 1 gene leading to a stop codon. Both the parents were unaffected heterozygous carriers. To our knowledge, this is the first case report of lipoid proteinosis with evidence of a novel nonsense genetic mutation from Bangladesh.

Indexed as

1246(c.1246C>T)BangladeshExtracellular matrix protein 1 gene (ECM1)Hoarseness of voiceLipoid proteinosisNonsense mutation in exon-8

Identifiers

PMID37492299
PMCPMC10364261
OpenAlexW4376956813

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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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.