Evidence map›Paper›PMID 39052101›Full record

ArticleMolecular biology reports2024

Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.

Assia Idyahia, Salaheddine Redouan, Ghita Amalou, Hicham Charoute, Houda Harmak, Crystel Bonnet, Christine Petit, Houda Benrahma, Abdelhamid Barakat

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

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1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Assia IdyahiaGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, 1 Place Louis Pasteur, Casablanca, 20360, Morocco.
Salaheddine RedouanGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, 1 Place Louis Pasteur, Casablanca, 20360, Morocco.
Ghita AmalouGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, 1 Place Louis Pasteur, Casablanca, 20360, Morocco.
Hicham CharouteResearch unit of epidemiology, biostatistics and bioinformatics, Institut Pasteur du Maroc, Casablanca, Morocco.
Houda HarmakGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, 1 Place Louis Pasteur, Casablanca, 20360, Morocco.
Crystel BonnetUniversité Paris Cité, Institut Pasteur, AP-HP, Inserm, Fondation pour l'Audition, Institut de l'Audition, IHU reConnect, Paris, F-75012, France.
Christine PetitUniversité Paris Cité, Institut Pasteur, AP-HP, Inserm, Fondation pour l'Audition, Institut de l'Audition, IHU reConnect, Paris, F-75012, France.
Houda BenrahmaInterdisciplinary Laboratory of Biotechnology and Health, Mohammed VI Higher Institute of Biosciences and Biotechnology, Mohammed VI University of Health Sciences (UM6SS), Casablanca, Morocco.
Abdelhamid BarakatGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, 1 Place Louis Pasteur, Casablanca, 20360, Morocco. hamid.barakat@pasteur.ma.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSyndromic hearing loss (SHL) is characterized by hearing impairment accompanied by other clinical manifestations, reaching over 400 syndromes. Early and accurate diagnosis is essential to understand the progression of hearing loss and associated systemic complications. METHODS AND

resultsIn this study, we investigated the genetic etiology of sensorineural hearing loss in three Moroccan patients using whole exome sequencing (WES). The results revealed in two families Perrault syndrome caused by LARS2, p. Asn153His; p. Thr629Met compound heterozygous variants in two siblings in one family; and p. Thr522Asn, a homozygous variant in two sisters in another. The patient in the third family was diagnosed with D-bifunctional protein deficiency (D-BPD), linked to compound heterozygous mutations p. Asn457Tyr and p. Val643Argfs*5 in HSD17B4. Molecular dynamic simulation results showed that Val643Argfs*5 does not prevent HSD17B4 protein from binding to the PEX5 receptor, but further studies are recommended to verify its effect on HSD17B4 protein functionality.

conclusionThese results highlight the effectiveness of WES in identifying pathogenic mutations involved in heterogeneous disorders and the usefulness of bioinformatics in predicting their effects on protein structure.

Indexed as

Amino Acyl-tRNA SynthetasesGonadal Dysgenesis, 46,XXHearing Loss, SensorineuralPeroxisomal Multifunctional Protein-2ChildExome SequencingFemaleHumansMaleMoroccoMutationPedigreeAmino Acyl-tRNA SynthetasesHSD17B4 protein, humanLARS2 protein, humanPeroxisomal Multifunctional Protein-2D-bifunctional protein deficiencyHSD17B4LARS2Perrault syndromeSyndromic hearing loss

Identifiers

PMID39052101

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