Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd.
Dextrocardia
Heterotaxy
Heterotaxy syndrome
Human congenital heart disease
Isomerism
Laterality defects
PKD1L1
PKD1L1 protein
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Feb 2020
Feb 2020
Historique:
received:
10
12
2018
revised:
25
03
2019
accepted:
21
04
2019
pubmed:
27
4
2019
medline:
21
10
2020
entrez:
27
4
2019
Statut:
ppublish
Résumé
Heterotaxy and congenital heart defects associated with pathogenic variants in the PKD1L1 gene (autosomal visceral heterotaxy type 8, MIM 617205) has been reported in only four individuals from three unrelated families. We describe a further family with two affected fetuses and novel compound heterozygous pathogenic variants in PKD1L1. PKD1L1 has been shown to function in the ciliary sensation of nodal flow at the embryo primitive node and in the restriction of NODAL signalling to the left lateral. plate mesoderm, mechanisms involved in the development of laterality in vertebrates. Individuals affected with this autosomal recessive condition have variable thoracic and abdominal situs. Features of CHD and other anomalies vary between and within families.
Identifiants
pubmed: 31026592
pii: S1769-7212(18)30904-2
doi: 10.1016/j.ejmg.2019.04.014
pii:
doi:
Substances chimiques
Codon, Nonsense
0
Membrane Proteins
0
PKD1L1 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
103657Informations de copyright
Crown Copyright © 2019. Published by Elsevier Masson SAS. All rights reserved.