Details

Autor(en) / Beteiligte

• Leal Ferman, Luis André
• Lévesque, Mathieu
• Lévesque, Sébastien
• Bocti, Christian

Titel

FA2H Mutations in a Young Adult Presenting as an Isolated Cognitive Impairment Syndrome

Ist Teil von

• Canadian journal of neurological sciences, 2020-11, Vol.47 (6), p.858-860

Ort / Verlag

New York, USA: Cambridge University Press

Erscheinungsjahr

2020

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• [...]investigations, including a complete metabolic workup (electrolytes, renal, and hepatic function, thyroid stimulating hormone, B12, B9, serum protein electrophoresis, iron profile, lipid profile, and inflammatory markers), search for inborn errors of metabolism (plasma amino acids, urinary organic acids, very long-chain fatty acids, acylcarnitines profile, and sterols analysis), infectious etiologies (including HIV and syphillis), and polysomnography were negative. With alternative diagnostics excluded, a comprehensive neurogenetics gene panel was performed, targeting 36 genes associated with autosomal dominant adult-onset dementia and 109 genes causing recessive disorders associated with developmental regression in children or cognitive decline in adults (see supplementary information for complete genes list). The variation introduces an amino change in the cytochrome b5 heme-binding domain of the FA2H protein. Cells transfection suggested that this variant inactivates FA2H activity.2 Finally, genetic analysis of her parents revealed that the two variants were inherited in a trans pattern, supporting their pathogenicity and the causative role of FA2H.