Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.

Authors

Paul R Mark
Stephen A. Murray, The Jackson LaboratoryFollow
Tao Yang
Alexandra Eby
Angela Lai
Di Lu
Jacob Zieba
Surender Rajasekaran
Elizabeth A VanSickle
Linda Z Rossetti
Lucia Guidugli
Kelly Watkins
Meredith S Wright
Caleb P Bupp
Jeremy W Prokop

Document Type

Article

Publication Date

10-1-2022

Publication Title

Cold Spring Harb Mol Case Stud

Keywords

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

JAX Source

Cold Spring Harb Mol Case Stud. 2022;8(6):a006169

Volume

8

Issue

6

ISSN

2373-2873

PMID

36307211

DOI

https://doi.org/10.1101/mcs.a006169

Abstract

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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