Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1.

Autor: Shambhavi A; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh, 226014, India., Moirangthem A; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh, 226014, India., Pandey M; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh, 226014, India., R Phadke S; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh, 226014, India. shubharaophadke@gmail.com.
Jazyk: angličtina
Zdroj: Indian journal of pediatrics [Indian J Pediatr] 2024 Aug; Vol. 91 (8), pp. 839-841. Date of Electronic Publication: 2023 Jun 19.
DOI: 10.1007/s12098-023-04652-3
Abstrakt: FAR1 (MIM *616107) is required for the reduction of fatty acyl CoAs to fatty alcohols which is important for plasmalogen biosynthesis. Recently, heterozygous de novo variants in FAR1 have been associated with cataracts, spastic paraparesis, and speech delay (MIM# 619338). Three different heterozygous de novo variants, all located in the same codon, causing substitution of arginine at position 480 into cysteine, histidine, or leucine, were reported in patients in the latter disorder.Here, authors have identified a novel substitution in the same Arg480 position into serine. The authors also provide in silico docking analysis of the mutant protein.
(© 2023. The Author(s), under exclusive licence to Dr. K C Chaudhuri Foundation.)
Databáze: MEDLINE
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