Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.

Authors :: Hassan K
Robay A
Al-Maraghi A
Nimeri N
Azzam AB
Al Shakaki A
Hamid E
Crystal RG
Fakhro KA
Source :: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2022 Mar 24; Vol. 8 (2). Date of Electronic Publication: 2022 Mar 24 (Print Publication: 2022).
Publication Year :: 2022
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.<br /> (© 2022 Hassan et al.; Published by Cold Spring Harbor Laboratory Press.)