Liver Involvement in Patients with Rare Variants and Intellectual Disability: A Case Report and Literature Review

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2023 Aug 26

PMID 37628684

Authors

Luisa Ronzoni

Matteo Mureddu

Francesco Malvestiti

Vittoria Moretti

Cristiana Bianco

Giulia Periti

Margherita Baldassarri

Francesca Ariani

Anna Carrer

Serena Pelusi

Alessandra Renieri

Daniele Prati

Luca Valenti

Affiliations

Soon will be listed here.

Abstract

The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) protein is an acyltransferase catalyzing arachidonic acid incorporation into lysophosphatidylinositol. Patients with rare, biallelic loss-of-function variants of the gene display intellectual disability with neurodevelopmental defects. The rs641738 inherited variant associated with reduced hepatic MBOAT7 expression has been linked to steatotic liver disease susceptibility. However, the impact of biallelic loss-of-function variants on liver disease is not known. We report on a 2-year-old girl with -related intellectual disability and steatotic liver disease, confirming that loss-of-function predisposes to liver disease.

Citing Articles

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