LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17

We report on a patient with a biallelic variant of the LRP4 gene presenting with a severe and neonatal lethal phenotype; we also provide a literature review of the previously reported patients. A female neonate, born to healthy consanguineous parents, presented with severe hypotonia, congenital diaphragmatic hernia, pulmonary hypertension, and progressive hypoxemia. Two of her siblings presented with a similar condition in the past, and all three died shortly after birth. Clinical exome sequencing revealed homozygosity for the pathogenic variant NM_002334.4:c.3698A > C (p.[Glu1233Ala]).PMID:38101565 | DOI:10.1016/j.ejmg.2023.104903

Source: European Journal of Medical Genetics - December 15, 2023 Category: Genetics & Stem Cells Authors: Tariq Al Jabry Nadia Al-Hashmi Basem Abdelhadi Almundher Al-Maawali Source Type: research