Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

Rahma Mkaouar; Zied Riahi; Cherine Charfeddine; Imen Chelly; Hela Boudabbous; Hamza Dallali; Crystel Bonnet; Meriem Hechmi; Soumeya Bekri; Nadia Zitouna; Lotfi Zekri; Amel Tounsi; Rym Kefi; Jihene Marrakchi; Olfa Messaoud; Ichraf Kraoua; Sonia Maalej; Ilhem Turki Ben Youssef; Ahlem Ben Hmid; Fabrice Giraudet; Sami Bouchoucha; Neji Tebib; Ghazi Besbes; Christine Petit; Ridha Mrad; Sonia Abdelhak; Mediha Trabelsi

doi:10.1371/journal.pone.0258202

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Open Access

Peer-reviewed

Research Article

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

Rahma Mkaouar ,

Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Methodology, Resources, Software, Writing – original draft

* E-mail: rahmamkaouar099@gmail.com, rahma.mkaouar@fst.utm.tn

Affiliations Laboratory of Biomedical Genomics and Oncogenetics LR20IPT05-Pasteur Institute in Tunis, Tunis, Tunisia, Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital in Tunis, Tunis, Tunisia, Faculty of Mathematical, Physical and Natural Sciences in Tunis, University of Tunis El Manar, Tunis, Tunisia

https://orcid.org/0000-0002-1663-672X

⨯
Zied Riahi,

Roles Conceptualization, Formal analysis, Investigation, Methodology, Resources, Software

Affiliation Laboratory of Biomedical Genomics and Oncogenetics LR20IPT05-Pasteur Institute in Tunis, Tunis, Tunisia
⨯
Cherine Charfeddine,

Roles Conceptualization, Resources, Writing – review & editing

Affiliations Laboratory of Biomedical Genomics and Oncogenetics LR20IPT05-Pasteur Institute in Tunis, Tunis, Tunisia, High Institute of Biotechnology of Sidi Thabet, Biotechpole of Sidi Thabet, University of Manouba, Ariana, Tunisia
⨯
Imen Chelly,

Roles Investigation, Resources, Writing – review & editing

Affiliations Department of Paediatrics, Habib Bougatfa Hospital, Bizerte, Tunisia, Faculty of Medicine in Tunis, LR99ES10 Laboratory of Human Genetics, University of Tunis El Manar, Tunis, Tunisia
⨯
Hela Boudabbous,

Roles Investigation, Resources, Writing – review & editing

Affiliations Department of Paediatrics and Metabolic Diseases EPS La Rabta Hospital in Tunis, Tunis, Tunisia, Faculty of Medicine in Tunis, Laboratory of Hereditary Diseases of the Metabolism Investigation and Patients Management, University of Tunis El Manar, Tunis, Tunisia, Faculty of Medicine in Tunis, Department of Epidemiology and Public Health, Directorate General of Military Health, University of Tunis El Manar, Tunis, Tunisia
⨯
Hamza Dallali,

Roles Formal analysis, Resources, Software

Affiliation Laboratory of Biomedical Genomics and Oncogenetics LR20IPT05-Pasteur Institute in Tunis, Tunis, Tunisia
⨯
Crystel Bonnet,

Roles Formal analysis, Resources, Software, Writing – review & editing

Affiliation Hearing Institute, Pasteur Institute, INSERM, Paris, France
⨯
Meriem Hechmi,

Roles Resources

Affiliations Laboratory of Biomedical Genomics and Oncogenetics LR20IPT05-Pasteur Institute in Tunis, Tunis, Tunisia, National Institute of Applied Science and Technology, University of Carthage, Tunis, Tunisia
⨯
Soumeya Bekri,

Roles Investigation

Affiliation Laboratory of Medical Biochemistry, Institute of Clinical Biology, University Hospital in Rouen, Rouen, France
⨯
Nadia Zitouna,

Roles Resources

Affiliations Laboratory of Biomedical Genomics and Oncogenetics LR20IPT05-Pasteur Institute in Tunis, Tunis, Tunisia, ICHARA association (International Research Institute on Sign Language), Tunis, Tunisia
⨯
Lotfi Zekri,

Roles Investigation, Resources

Affiliations Laboratory of Biomedical Genomics and Oncogenetics LR20IPT05-Pasteur Institute in Tunis, Tunis, Tunisia, ICHARA association (International Research Institute on Sign Language), Tunis, Tunisia
⨯
Amel Tounsi,

Roles Investigation

Affiliations ICHARA association (International Research Institute on Sign Language), Tunis, Tunisia, CNSS Polyclinic, UMA square, Bizerte, Tunisia
⨯
Rym Kefi,

Roles Resources

Affiliation Laboratory of Biomedical Genomics and Oncogenetics LR20IPT05-Pasteur Institute in Tunis, Tunis, Tunisia
⨯
Jihene Marrakchi,

Roles Investigation, Writing – review & editing

Affiliations Laboratory of Biomedical Genomics and Oncogenetics LR20IPT05-Pasteur Institute in Tunis, Tunis, Tunisia, Department of Otorhinolaryngology and Maxillofacial Surgery—La Rabta Hospital in Tunis, Tunis, Tunisia
⨯
Olfa Messaoud,

Roles Writing – review & editing

Affiliation Laboratory of Biomedical Genomics and Oncogenetics LR20IPT05-Pasteur Institute in Tunis, Tunis, Tunisia
⨯
Ichraf Kraoua,

Roles Investigation

Affiliation Department of Child Neurology, LR 18SP04, National Institute Mongi Ben Hmida of Neurology in Tunis, University of Tunis El Manar, Tunis, Tunisia
⨯
Sonia Maalej,

Roles Investigation

Affiliation Department of Pneumology-Abderahman Mami Hospital in Ariana, Ariana, Tunisia
⨯
Ilhem Turki Ben Youssef,

Roles Investigation

Affiliation Department of Child Neurology, LR 18SP04, National Institute Mongi Ben Hmida of Neurology in Tunis, University of Tunis El Manar, Tunis, Tunisia
⨯
Ahlem Ben Hmid,

Roles Investigation

Affiliation Laboratory of clinical immunology, Pasteur Institute in Tunis, Tunis, Tunisia
⨯
Fabrice Giraudet,

Roles Investigation, Resources

Affiliation Faculty of Medicine, Neurosensory Biophysics, INSERM 1107, University of Clermont Auvergne, Clermont-Ferrand, France
⨯
Sami Bouchoucha,

Roles Investigation

Affiliations Laboratory of Biomedical Genomics and Oncogenetics LR20IPT05-Pasteur Institute in Tunis, Tunis, Tunisia, Department of Paediatric Orthopaedics and Traumatology -Children’s Hospital Bechir Hamza, Tunis, Tunisia
⨯
Neji Tebib,

Roles Investigation

Affiliations Department of Paediatrics and Metabolic Diseases EPS La Rabta Hospital in Tunis, Tunis, Tunisia, Faculty of Medicine in Tunis, Laboratory of Hereditary Diseases of the Metabolism Investigation and Patients Management, University of Tunis El Manar, Tunis, Tunisia, Faculty of Medicine in Tunis, Department of Epidemiology and Public Health, Directorate General of Military Health, University of Tunis El Manar, Tunis, Tunisia
⨯
Ghazi Besbes,

Roles Investigation, Resources

Affiliations Faculty of Medicine in Tunis, Laboratory of Hereditary Diseases of the Metabolism Investigation and Patients Management, University of Tunis El Manar, Tunis, Tunisia, Department of Otorhinolaryngology and Maxillofacial Surgery—La Rabta Hospital in Tunis, Tunis, Tunisia
⨯
Christine Petit,

Roles Resources

Affiliations Hearing Institute, Pasteur Institute, INSERM, Paris, France, College of France, Paris, France
⨯
Ridha Mrad,

Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – review & editing

Affiliations Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital in Tunis, Tunis, Tunisia, Faculty of Medicine in Tunis, LR99ES10 Laboratory of Human Genetics, University of Tunis El Manar, Tunis, Tunisia
⨯
Sonia Abdelhak,

Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Methodology, Project administration, Supervision, Validation, Visualization, Writing – review & editing

Affiliation Laboratory of Biomedical Genomics and Oncogenetics LR20IPT05-Pasteur Institute in Tunis, Tunis, Tunisia
⨯
[ ... ],
Mediha Trabelsi

Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – review & editing

Affiliations Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital in Tunis, Tunis, Tunisia, Faculty of Medicine in Tunis, LR99ES10 Laboratory of Human Genetics, University of Tunis El Manar, Tunis, Tunisia
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Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

Rahma Mkaouar,
Zied Riahi,
Cherine Charfeddine,
Imen Chelly,
Hela Boudabbous,
Hamza Dallali,
Crystel Bonnet,
Meriem Hechmi,
Soumeya Bekri,
Nadia Zitouna

Published: October 6, 2021
https://doi.org/10.1371/journal.pone.0258202

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