| First Author | Mark PR | Year | 2022 |
| Journal | Cold Spring Harb Mol Case Stud | Volume | 8 |
| Issue | 6 | PubMed ID | 36307211 |
| Mgi Jnum | J:333788 | Mgi Id | MGI:7440125 |
| Doi | 10.1101/mcs.a006169 | Citation | Mark PR, et al. (2022) Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding. Cold Spring Harb Mol Case Stud 8(6) |
| abstractText | 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 LRP1, in which segregation analysis helped dismiss additional variants of interest. LRP1 analysis using multiple human/mouse data sets reveals a correlation to patient phenotypes of Peters plus syndrome with additional severe cardiomyopathy and blood vessel development complications linked to neural crest cells. |
