Article
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
PloS one - 1 Jan 2021
Mkaouar Rahma, Riahi Zied, Charfeddine Cherine, Chelly Imen, Boudabbous Hela, Dallali Hamza, Bonnet Crystel, Hechmi Meriem, Bekri Soumeya, Zitouna Nadia, Zekri Lotfi, Tounsi Amel, Kefi Rym, Marrakchi Jihene, Messaoud Olfa, Kraoua Ichraf, Maalej Sonia, Turki Ben Youssef Ilhem, Ben Hmid Ahlem, Giraudet Fabrice, Bouchoucha Sami, Tebib Neji, Besbes Ghazi, Petit Christine, Mrad Ridha, Abdelhak Sonia, Trabelsi Mediha
Abstract excerpt
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....
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