Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd

Anna Le Fevre; Julia Baptista; Sian Ellard; Timothy Overton; Ann Oliver; Elise Gradhand; Ingrid Scurr

doi:10.1016/j.ejmg.2019.04.014

Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd

Anna Le Fevre, Julia Baptista, Sian Ellard, Timothy Overton, Ann Oliver, Elise Gradhand, Ingrid Scurr^*

^*Corresponding author for this work

Centre for Medical Education

Research output: Contribution to journal › Article (Academic Journal) › peer-review

12 Citations (Scopus)

Abstract

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.

Original language	English
Article number	103657
Journal	European Journal of Medical Genetics
Volume	63
Issue number	2
Early online date	23 Apr 2019
DOIs	https://doi.org/10.1016/j.ejmg.2019.04.014
Publication status	Published - Feb 2020

Keywords

Dextrocardia
Heterotaxy
Heterotaxy syndrome
Human congenital heart disease
Isomerism
Laterality defects
PKD1L1
PKD1L1 protein

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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title = "Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd",

abstract = "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.",

keywords = "Dextrocardia, Heterotaxy, Heterotaxy syndrome, Human congenital heart disease, Isomerism, Laterality defects, PKD1L1, PKD1L1 protein",

author = "{Le Fevre}, Anna and Julia Baptista and Sian Ellard and Timothy Overton and Ann Oliver and Elise Gradhand and Ingrid Scurr",

year = "2020",

month = feb,

doi = "10.1016/j.ejmg.2019.04.014",

language = "English",

volume = "63",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

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TY - JOUR

T1 - Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd

AU - Le Fevre, Anna

AU - Baptista, Julia

AU - Ellard, Sian

AU - Overton, Timothy

AU - Oliver, Ann

AU - Gradhand, Elise

AU - Scurr, Ingrid

PY - 2020/2

Y1 - 2020/2

N2 - 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.

AB - 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.

KW - Dextrocardia

KW - Heterotaxy

KW - Heterotaxy syndrome

KW - Human congenital heart disease

KW - Isomerism

KW - Laterality defects

KW - PKD1L1

KW - PKD1L1 protein

UR - http://www.scopus.com/inward/record.url?scp=85065064687&partnerID=8YFLogxK

U2 - 10.1016/j.ejmg.2019.04.014

DO - 10.1016/j.ejmg.2019.04.014

M3 - Article (Academic Journal)

C2 - 31026592

AN - SCOPUS:85065064687

SN - 1769-7212

VL - 63

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 2

M1 - 103657

ER -

Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd

Abstract

Keywords

UN SDGs

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