AUTHOR=Alsafwani Rabab Said , Nasser Khalidah K. , Shinawi Thoraia , Banaganapalli Babajan , ElSokary Hanan Abdelhalim , Zaher Zhaher F. , Shaik Noor Ahmad , Abdelmohsen Gaser , Al-Aama Jumana Yousuf , Shapiro Adam J. , O. Al-Radi Osman , Elango Ramu , Alahmadi Turki TITLE=Novel MYO1D Missense Variant Identified Through Whole Exome Sequencing and Computational Biology Analysis Expands the Spectrum of Causal Genes of Laterality Defects JOURNAL=Frontiers in Medicine VOLUME=8 YEAR=2021 URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2021.724826 DOI=10.3389/fmed.2021.724826 ISSN=2296-858X ABSTRACT=
Laterality defects (LDs) or asymmetrically positioned organs are a group of rare developmental disorders caused by environmental and/or genetic factors. However, the exact molecular pathophysiology of LD is not yet fully characterised. In this context, studying Arab population presents an ideal opportunity to discover the novel molecular basis of diseases owing to the high rate of consanguinity and genetic disorders. Therefore, in the present study, we studied the molecular basis of LD in Arab patients, using next-generation sequencing method. We discovered an extremely rare novel missense variant in