Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome.

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2022 Oct Others R Kumari, VV Holla, P Phulpagar… - Journal of …, 2022 - Wiley Online Library 11

Full Author : ['Kumari, Riyanka', 'Holla, Vikram V', 'Phulpagar, Prashant', 'Sriram, Neeharika', 'Hegde, Aditya G', 'Vengalil, Seena', 'Kamble, Nitish', 'Saini, Jitender', 'Yadav, Ravi', 'Pal, Pramod Kumar', 'Muthusamy, Babylakshmi']
Journal Title : Journal of neuroendocrinology
Chapter : Section13, Section16, Section3
Journal Year : 2022

Woodhouse-Sakati syndrome (WSS) is an extremely rare multisystemic disorder with neuroendocrine dysfunctions. It is characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability and progressive extrapyramidal syndrome along with radi..... Read More

Keywords : ['novel pathogenic splice site mutation', 'gene underlie woodhousesakati syndrome', 'whole exome sequence', 'transcript analysis discover']
PubMed Link : https://onlinelibrary.wiley.com/doi/abs/10.1111/jne.13185

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Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome.