Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.
Animals
Humans
Mice
Cleft Lip
/ complications
Corneal Diseases
/ metabolism
Ductus Arteriosus, Patent
/ complications
Heart Defects, Congenital
Limb Deformities, Congenital
/ complications
Low Density Lipoprotein Receptor-Related Protein-1
Syndrome
Bone Diseases
/ complications
Lung Diseases
/ complications
episodic respiratory distress
fetal ascites
hypertelorism
mild fetal ventriculomegaly
patent ductus arteriosus after premature birth
polyhydramnios
postductal coarctation of the aorta
small anterior fontanelle
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
10 2022
10 2022
Historique:
received:
29
11
2021
accepted:
22
08
2022
entrez:
28
10
2022
pubmed:
29
10
2022
medline:
2
11
2022
Statut:
epublish
Résumé
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
Identifiants
pubmed: 36307211
pii: mcs.a006169
doi: 10.1101/mcs.a006169
pmc: PMC9632358
pii:
doi:
Substances chimiques
Low Density Lipoprotein Receptor-Related Protein-1
0
LRP1 protein, human
0
Lrp1 protein, mouse
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIDCR NIH HHS
ID : R03 DE019451
Pays : United States
Informations de copyright
© 2022 Mark et al.; Published by Cold Spring Harbor Laboratory Press.
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