Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene

Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice... Pathogenic variants in the AP4B1 gene lead to a rare form of hereditary spastic paraplegia (HSP) known as SPG47. We report on a patient with a clinical suspicion of complicated HSP of the lower limbs with intellectual disability, as well as a novel homozygous noncanonical splice site variant in the AP4B1 gene, in which the effect on splicing was validated by RNA analysis. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

Loading next page...
 
/lp/wiley/hereditary-spastic-paraplegia-associated-with-a-novel-homozygous-Q9Lb72dMmA

References (22)

Publisher
Wiley
Copyright
© 2022 John Wiley & Sons Ltd/University College London
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1111/ahg.12455
Publisher site
See Article on Publisher Site

Abstract

Pathogenic variants in the AP4B1 gene lead to a rare form of hereditary spastic paraplegia (HSP) known as SPG47. We report on a patient with a clinical suspicion of complicated HSP of the lower limbs with intellectual disability, as well as a novel homozygous noncanonical splice site variant in the AP4B1 gene, in which the effect on splicing was validated by RNA analysis.

Journal

Annals of Human GeneticsWiley

Published: May 1, 2022

Keywords: AP4B1; hereditary spastic paraplegia; mRNA; NGS; splice site

There are no references for this article.