We are pleased to announce a publication first authored by Jun Kido (Kumamoto University) and Johannes Häberle (University Children’s Hospital Zürich) as senior author. The publication titled “Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review” was published in Human Mutation and is available for viewing here: https://doi.org/10.1155/humu/9326326
This study presents findings from a nationwide investigation in Japan, combined with a comprehensive literature review, to examine the relationship between genotypes and clinical outcomes in citrin deficiency. Genetic and clinical data from 345 patients were analysed, revealing 68 distinct SLC25A13 variants, with c.852_855del and c.1177+1G>A emerging as the most common pathogenic mutations across all age groups. Notably, the c.852_855del variant—even in compound heterozygosity—was associated with more severe clinical manifestations, including hyperammonemia, cognitive impairment, short stature, liver cirrhosis, and pancreatitis, with some patients requiring liver transplantation. These findings are consistent with the molecular understanding that this mutation results in a severely truncated and nonfunctional citrin protein.
This work significantly advances our understanding of genotype-phenotype correlations in citrin deficiency, informs clinical management, and lays the groundwork for future therapeutic approaches, including gene-targeted interventions.
Supported by the Citrin Foundation, this study exemplifies international collaboration with contributions from research groups in Japan, United Kingdom, and Switzerland.
We commend the authors for their outstanding contributions and congratulate them on this impactful publication.
The Foundation continues to fund research projects to better understand citrin deficiency and ultimately find a cure for this condition. We have thus far earmarked US$30 million for research on citrin deficiency and are offering generous research grants to study the condition. You may find out more about our Funding Opportunities here: https://citrinfoundation.org/research/funding-opportunities
We value any feedback or ideas you might have, so please do not hesitate to contact us at info@citrinfoundation.org
