A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant.

Amir Anushiravani Hossein Jafari KhamiraniAshraf MohamadkhaniArya ManiMehdi Dianatpour Reza Malekzadeh

Published in: Archives of Iranian medicine (2023)

A homozygous missense variant (NM_001127605.3:c.928T>A, p.Trp310Arg) of the LIPA gene which caused LAL-D was found to be associated with dyslipidemia, fatty liver disease and/or cirrhosis in six members of an Iranian family. These results should be confirmed by functional studies and extending the study to at least three families.

Keyphrases

photodynamic therapy
genome wide
intellectual disability
autism spectrum disorder
transcription factor
case control