What is it about?
In this paper, I (and colleagues) have put forward a novel observation of a syndromic association that is likely due to the synergistic occurrence of two different gene mutations (PTRH2 and KIF1A) in the same patient. Such an observation involving the co-occurrence of the PTRH2 and KIF1A gene mutations, is the first report ever worldwide. In 2014, a preceding syndrome with PTRH2 gene involvement alone, was reported and it was termed the IMNEPD syndrome. Furthermore, in this paper, apart from reporting the novel syndromic association, I have also put forward a new technical terminology which I hope.. will be adapted in the future in medical parlance. I have introduced the term "Neuro Pancreatic Syndromes" (NPS) under which I have included two - 1. The syndrome discussed in this paper. (Two gene mutations) 2. IMNEPD syndrome (single gene mutation). We have also proposed an alternative terminology Hu-Matter-Jahns syndrome for the IMNEPD after its discoverers.
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This page is a summary of: A Novel Synergistic Association of Variants in PTRH2 and KIF1A Relates to a Syndrome of Hereditary Axonopathy, Outer Hair Cell Dysfunction, Intellectual Disability, Pancreatic Lipomatosis, Diabetes, Cerebellar Atrophy, and Vertebral Artery Hypoplasia, Cureus, February 2021, Cureus, Inc.,
DOI: 10.7759/cureus.13174.
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