A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses

A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses

Abstract The C1QBP protein (complement component 1 Q subcomponent‐binding protein), encoded by the C1QBP gene, is a multifunctional protein predominantly localized in the mitochondrial matrix. Biallelic variants have previously been shown to give rise to combined respiratory‐chain deficiencies with...

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Bibliographic Details
Main Authors: Morten Alstrup, Ida Vogel, Puk Sandager, Jenny Blechingberg, Naja Becher, Elsebet Østergaard
Format: Article
Language:English
Published: Wiley 2021-05-01
Series:JIMD Reports
Subjects:
C1QBP
cardiomyopathy
IUGR
mitochondrial
prenatal phenotype
Online Access:https://doi.org/10.1002/jmd2.12209

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