American Journal of Medical Genetics Part A · 2019 · 13 citations · 4 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsPrenatal DiagnosisCongenital AnomaliesCongenital DisordersCongenital MalformationsFetal AnomaliesGenetic DisordersGenetic SyndromesAutosomal Recessive InheritanceCongenital Anomaly MutationsCorpus Callosum AbnormalitiesExome SequencingFetal Exome SequencingPathogenic Variant AssociationPrenatal Exome SequencingWhole Exome Sequencing Studies
Donnai-Barrow syndrome (DBS) is an autosomal recessive disorder characterized by typical craniofacial features, vision and hearing loss, intellectual disability, agenesis of the corpus callosum (ACC), congenital diaphragmatic hernia (CDH), and omphalocele. This condition is associated with loss-of-function mutations in the LRP2 gene. Few cases have been described in the literature. In our case, CDH and ACC were prenatally diagnosed by ultrasound, and the fetus was the product of a first-degree union. Single-nucleotide polymorphism-microarray showed large regions of homozygosity. Whole exome sequencing (WES) was performed and revealed a homozygous frameshift pathogenic variant in LRP2 (c.6978dupG). Here, we present a case of DBS, which diagnosed prenatally via WES in a fetus with CDH and ACC.
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Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text