Heterozygous Mutations in Both the and Genes: Double Haploinsufficiency as an Unusual Cause of Vitamin B Deficiency-A Case Report.

Fiche publication

Date publication

novembre 2024

Journal

Clinical case reports

Auteurs

Membres identifiés du Cancéropôle Est :
Pr GUEANT Jean-Louis , Dr OUSSALAH Abderrahim

Tous les auteurs :
Iversen PO, Gueant JL, Oussalah A, Refsum H, Nexo E, Tjønnfjord GE, Qvigstad C

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/39582727

Résumé

Vitamin B deficiency is usually simple to diagnose. However, our patient demonstrates that in difficult cases, the ordinary clinician may need a transdisciplinary approach. The finding of a double haploinsufficiency as a possible cause of vitamin B deficiency in our patient, illustrates the usefulness of performing large panel clinical exome sequencing.