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

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 repo...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	PloS one 2021-10, Vol.16 (10), p.e0258202-e0258202
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	alpha-Mannosidosis Audiometry Base Sequence Biology and Life Sciences Carrier Proteins Cognition disorders Cognitive ability Cognitive Dysfunction Congenital diseases Consanguinity Diagnosis Disease Enzymatic activity Enzymes Epidemiology Exome Sequencing Family Female Genes Genetic disorders Genetic Predisposition to Disease Genetics Genomics Geography Health aspects Hearing loss Hospitals Humans Impairment Intellectual disabilities Laboratories Life Sciences Male Mannosidase Mannosidosis Maxillofacial surgery Medicine Medicine and Health Sciences Membrane Transport Proteins Metabolic disorders Missense mutation Mutation Neurology Nicolle, Charles (1866-1936) Nonsense mutation Otolaryngology Patients Pediatrics Pedigree Phenotype Phenotypes Prevention Public health Research and Analysis Methods Risk factors Sign language Tunisia
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!