{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["16(10)"],"submitter":["Mkaouar R"],"funding":["MOBIDOC_EU_EMORI program_ANPR"],"pubmed_abstract":["Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical presentation of AM includes mental retardation, recurrent infections, hearing loss, dysmorphic features, and motor dysfunctions. AM has never been reported in Tunisia. We report here the clinical and genetic study of six patients from two Tunisian families with AM. The AM diagnosis was confirmed by an enzymatic activity assay. Genetic investigation was conducted by Sanger sequencing of the mutational hotspots for the first family and by ES analysis for the second one. In the first family, a frameshift duplication p.(Ser802GlnfsTer129) was identified in the MAN2B1 gene. For the second family, ES analysis led to the identification of a missense "],"journal":["PloS one"],"pagination":["e0258202"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8494324"],"repository":["biostudies-literature"],"pubmed_title":["Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment."],"pmcid":["PMC8494324"],"pubmed_authors":["Zekri L","Turki Ben Youssef I","Tebib N","Mrad R","Zitouna N","Messaoud O","Tounsi A","Hechmi M","Abdelhak S","Mkaouar R","Charfeddine C","Kefi R","Riahi Z","Chelly I","Bekri S","Giraudet F","Trabelsi M","Marrakchi J","Maalej S","Bouchoucha S","Bonnet C","Petit C","Ben Hmid A","Besbes G","Boudabbous H","Dallali H","Kraoua I"],"additional_accession":[]},"is_claimable":false,"name":"Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.","description":"Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical presentation of AM includes mental retardation, recurrent infections, hearing loss, dysmorphic features, and motor dysfunctions. AM has never been reported in Tunisia. We report here the clinical and genetic study of six patients from two Tunisian families with AM. The AM diagnosis was confirmed by an enzymatic activity assay. Genetic investigation was conducted by Sanger sequencing of the mutational hotspots for the first family and by ES analysis for the second one. In the first family, a frameshift duplication p.(Ser802GlnfsTer129) was identified in the MAN2B1 gene. For the second family, ES analysis led to the identification of a missense ","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021","modification":"2026-05-07T21:22:40.834Z","creation":"2022-02-11T12:00:14.305Z"},"accession":"S-EPMC8494324","cross_references":{"pubmed":["34614013"],"doi":["10.1371/journal.pone.0258202"]}}