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ArticleMolecular genetics & genomic medicine2024

Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.

Ichraf Kraoua, Maha Jamoussi, Cyrine Drissi, Lilia Kraoua, Séverine Drunat, Hanene Benrhouma, Thouraya Ben Younes, Sonia Nagi, Sonia Abdelhak, Odile Boespflug Tanguy and 3 more

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Article in Molecular genetics & genomic medicine, 2024. 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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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Ichraf KraouaLR18SP04, Department of Child and Adolescent Neurology, Faculty of Medicine of Tunis, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.ORCID https://orcid.org/0000-0001-6942-5662
Maha JamoussiLR18SP04, Department of Child and Adolescent Neurology, Faculty of Medicine of Tunis, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.ORCID https://orcid.org/0000-0003-3659-0594
Cyrine DrissiDepartment of Neuroradiology, Faculty of Medicine of Tunis, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.
Lilia KraouaDepartment of Congenital and Hereditary Diseases, Faculty of Medicine of Tunis, Charles Nicolle Hospital, University of Tunis El Manar, Tunis, Tunisia.
Séverine DrunatGénétique Moléculaire, DMU BioGeM, APHP, Hôpital Robert Debré, Paris, France.
Hanene BenrhoumaLR18SP04, Department of Child and Adolescent Neurology, Faculty of Medicine of Tunis, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.
Thouraya Ben YounesLR18SP04, Department of Child and Adolescent Neurology, Faculty of Medicine of Tunis, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.
Sonia NagiDepartment of Neuroradiology, Faculty of Medicine of Tunis, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.
Sonia AbdelhakLR11IPT05, Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Odile Boespflug TanguyINSERM UMR1141, Hôpital Robert Debré, Université Paris Cité, Paris, France.
Ilhem Ben Youssef-TurkiLR18SP04, Department of Child and Adolescent Neurology, Faculty of Medicine of Tunis, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.
Mediha TrabelsiDepartment of Congenital and Hereditary Diseases, Faculty of Medicine of Tunis, Charles Nicolle Hospital, University of Tunis El Manar, Tunis, Tunisia.
Imen DorbozINSERM UMR1141, Hôpital Robert Debré, Université Paris Cité, Paris, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPOLIII-related leukodystrophies are a group of recently recognized hereditary white matter diseases with a similar clinical and radiological phenotype. No Tunisian studies have been published about POLIII-related leukodystrophy due to POLR3A variants. The aim of this study was to contribute to the clinical, radiological, and genetic characterization of POLR3A-related leukodystrophy in a Tunisian cohort.

methodsWe report six cases of genetically confirmed POLR3A-related leukodystrophy belonging to six unrelated Tunisian families, along with a review of previously published pediatric cases.

resultsAll patients were born to consanguineous marriages and originated from the North or the Center of Tunisia. Age at onset varied between 15 months and 6 years. The clinical phenotype was similar in all patients with cerebellar ataxia, tremor, and nystagmus being the key features. Brain imaging showed diffuse hypomyelination in all patients with progressive cerebellar atrophy in three patients. Molecular analysis identified the same bi-allelic NM_007055.4:c.2011T>C; p.(Trp671Arg) variant in the POLR3A gene in all patients.

conclusionWe hypothesize a founder effect for the identified variant given its recurrence in six unrelated individuals with a similar clinical phenotype. Given the apparent genetic homogeneity of Tunisian POLR3A patients, the recurrent variant should be directly targeted. This should facilitate diagnosis in index patients, and genetic counseling.

Indexed as

PedigreePhenotypeRNA Polymerase IIIAtaxiaCerebellar AtaxiaChildChild, PreschoolFemaleHereditary Central Nervous System Demyelinating DiseasesHumansInfantMaleMutationTremorTunisiaPOLR3A protein, humanRNA Polymerase IIIataxiahypomyelinationMRIPOLR3A gene

Identifiers

PMID39436788
PMCPMC11495397

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