Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.
Cold Spring Harb Mol Case Stud
JMG, Animals, Humans, Mice, Cleft Lip, Corneal Diseases, Ductus Arteriosus, Patent, Heart Defects, Congenital, Limb Deformities, Congenital, Low Density Lipoprotein Receptor-Related Protein-1, Syndrome, Bone Diseases, Lung Diseases
Cold Spring Harb Mol Case Stud. 2022;8(6):a006169
We provide the first study of two siblings with a novel autosomal recessive LRP1-related syndrome identified by rapid genome sequencing and overlapping multiple genetic models. The patients presented with respiratory distress, congenital heart defects, hypotonia, dysmorphology, and unique findings, including corneal clouding and ascites. Both siblings had compound heterozygous damaging variants, c.11420G > C (p.Cys3807Ser) and c.12407T > G (p.Val4136Gly) in
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