Biallelic Loss-of-Function Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.

Background: Biallelic loss-of-function variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only.

Objectives: To fully characterize, both phenotypically and genotypically, -related mitochondrial disease.

Methods: We collected data from cases identified by screening genetic databases of several laboratories worldwide and systematically reviewed the literature.

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

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 variable phenotypic presentation, severity, and age at onset, from intrauterine with a mostly lethal course, to a late-onset mild myopathy. We present two fetuses, one male and one female, of first-cousin parents, with severe intrauterine growth retardation, oligo/anhydramnios, edema, and cardiomyopathy as the most prominent prenatal symptoms.

Genotype and phenotype classification of 29 patients affected by Krabbe disease.

Krabbe disease is a rare neurodegenerative lysosomal storage disorder caused by mutations in the galactocerebrosidase gene, . Krabbe disease usually affects infants, but has also been reported in older children and adults. Different phenotypes are described based on age at onset.

Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound.

This article hypothesizes that it is possible to detect and diagnose both the autosomal recessive and dominant forms prenatally using ultrasound. By focusing on the characteristic phenotypical presentation, the examinator is able to diagnose the syndrome prenatally, which is of clinical importance to the parents and counseling for the consideration of terminating the pregnancy.