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- W3180385298 abstract "Introduction. Histidine Triad Nucleotide binding protein 1 (HINT1) also known as Protein kinase C inhibitor 1 (PRKCNH-1); Protein kinase C interacting protein 1 (PKCI-1), mapped to chromosome 5q31, is a purine phosphoramidase homodimer and is ubiquitously expressed. HINT1 is a tumour suprresor gene and is involved in several apoptotic pathways. Biallelic variants in the HINT1 gene are known to cause Neuromyotonia with Axonal Neuropathy (NMAN). Zimon et al. have identified 8 HINT1 variants in 33 families of NMAN. Results. A 13-year-old male child, born of consanguineous parentage; presented for the first time in 2018 with of bilateral foot drop of 2 years duration. This was followed one and half year later by bilateral forearm and hand muscle weakness in the form of finger and wrist drop with ulner deviation of the wrist. Hyperpigmentation of the knuckles was noted on the examination. Investigations were negative for screening of inborn errors of metabolism by Tandem mass spectrometry. His serum vitamin B12 level was 692 pg/ml (180-914 pg/ml). ENMG demonstrated neurogenic myotonia. NGS of the proband reported a pathogenic start-loss variation c.3G>C_NM005340.7 (p.Met1Ile) in the HINT1 gene aligned to human reference genome (GRCh37/hg19). The variant is not reported in the ClinVar and the Human gemone mutation (HGMD) databases. A variant at c.2T>C has been reported as likely pathogenic for NMAN in the ClinVar database. The variant is reported as damaging by SIFT, possibly damaging by PolyPhen2, and disease causing by MutationTaster2. CADD score is 24. The variant is not reported in gnomAD, 1000 genome and ExAC population frequency databases. Conclusion. Rare genetic causes of CMT are important contributions to the full allelic spectrum of the disease. Here we report an ultra-rare NMAN case of Indian origin; mediated by a novel, pathogenic, biallelic start-loss variant in the HINT1 gene." @default.
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- W3180385298 date "2021-08-01" @default.
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- W3180385298 title "P-PN036. Loss of function mutation in HINT1 gene presenting with neuromyotonia and hereditary neuropathy" @default.
- W3180385298 doi "https://doi.org/10.1016/j.clinph.2021.02.284" @default.
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