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An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New PTRH2 Gene Variants.

Genes - 25 Nov 2024

Sharkia Rajech, Vuillaume Marie-Laure, Jain Sahil, Mahajnah Muhammad, Stoeva Radka, Guichet Agnès, Colin Estelle, Champ Jérome, Derive Nicolas, Chefdor Arnaud, Zalan Abdelnaser

Abstract excerpt

BACKGROUND/OBJECTIVES: Biallelic mutations in the PTRH2 gene are associated with a rare genetic disease known as infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). In this study, we describe a new case carrying a previously identified mutation, provide an updated analysis of the relative frequencies of the clinical features across all published cases (including the three latest...

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PMID: 39766776
DOI: 10.3390/genes15121508

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