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

Autor:	Mark PR; Division of Medical Genetics, Spectrum Health, Grand Rapids, Michigan 49503, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan 49503, USA., Murray SA; The Jackson Laboratory, Bar Harbor, Maine 04609, USA., Yang T; Department of Cell Biology, Van Andel Institute, Grand Rapids, Michigan 49503, USA., Eby A; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan 49503, USA.; Department of Science, Davenport University, Grand Rapids, Michigan 49512, USA., Lai A; Neonatal Intensive Care Unit, Bronson Methodist Hospital, Kalamazoo, Michigan 49007, USA., Lu D; Department of Cell Biology, Van Andel Institute, Grand Rapids, Michigan 49503, USA., Zieba J; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan 49503, USA.; Genetics and Genome Sciences Program, Michigan State University, East Lansing, Michigan 48824, USA., Rajasekaran S; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan 49503, USA.; Office of Research, Spectrum Health, Grand Rapids, Michigan 49503, USA., VanSickle EA; Division of Medical Genetics, Spectrum Health, Grand Rapids, Michigan 49503, USA., Rossetti LZ; Division of Medical Genetics, Spectrum Health, Grand Rapids, Michigan 49503, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan 49503, USA., Guidugli L; Rady Children's Institute for Genomic Medicine, San Diego, California 92123, USA., Watkins K; Rady Children's Institute for Genomic Medicine, San Diego, California 92123, USA., Wright MS; Rady Children's Institute for Genomic Medicine, San Diego, California 92123, USA., Bupp CP; Division of Medical Genetics, Spectrum Health, Grand Rapids, Michigan 49503, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan 49503, USA., Prokop JW; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan 49503, USA.; Genetics and Genome Sciences Program, Michigan State University, East Lansing, Michigan 48824, USA.; Department of Pharmacology and Toxicology, Michigan State University, East Lansing, Michigan 48824, USA.
Jazyk:	angličtina
Zdroj:	Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2022 Oct 28; Vol. 8 (6). Date of Electronic Publication: 2022 Oct 28 (Print Publication: 2022).
DOI:	10.1101/mcs.a006169
Abstrakt:	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. (© 2022 Mark et al.; Published by Cold Spring Harbor Laboratory Press.)
Databáze:	MEDLINE
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