Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.

Publication Type	Academic Article
Authors	Hassan K, Robay A, Al-Maraghi A, Nimeri N, Azzam A, Al Shakaki A, Hamid E, Crystal R, Fakhro K
Journal	Cold Spring Harb Mol Case Stud
Volume	8
Issue	2
Date Published	03/24/2022
ISSN	2373-2873
Keywords	Cytomegalovirus Infections, Myosin Type V
Abstract	Microvillus inclusion disease (MVID) is a rare autosomal recessive condition characterized by a lack of microvilli on the surface of enterocytes, resulting in severe, life-threatening diarrhea that could lead to mortality within the first year of life. We identify two unrelated families, each with one child presenting with severe MVID from birth. Using trio whole-exome sequencing, we observed that the two families share a novel nonsense variant (Glu1589*) in the MYO5B gene, a type Vb myosin motor protein in which rare damaging mutations were previously described to cause MVID. This founder mutation was very rare in public databases and is likely specific to patients of Syrian ancestry. We present a detailed account of both patients' clinical histories to fully characterize the effect of this variant and expand the genotype-phenotype databases for MVID patients from the Middle East.
DOI	10.1101/mcs.a006103
PubMed ID	34815247
PubMed Central ID	PMC8958910