title: Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency.
abstract: Fumarase deficiency is a rare autosomal recessive metabolic condition. We report on a sibship with molecularly confirmed fumarase deficiency. Prenatal findings included agenesis of the corpus callosum, ventriculomegaly, and ventriculoseptal defect. The postnatal course was significant for metabolic acidosis ultimately leading to death around 3 weeks of age. Postmortem findings were noted including swollen mitochondria with abnormal cristae on electron microscopy within the liver. Molecular testing revealed a novel whole gene deletion in conjunction with a point mutation. While the point mutation has been previously reported, the detection of a whole gene deletion has not been described to date in an individual with fumarase deficiency.
authors: Sanford School of Medicine at the University of South Dakota, Sioux Falls, South Dakota, USA. amelia.mroch@sanfordhealth.org
authors: Amelia R
authors: AR
authors: Mroch
authors: Mark
authors: M
authors: Laudenschlager
authors: Jason D
authors: JD
authors: Flanagan
mesh_terms: D000138:Acidosis / Q000235:genetics / Q000473:pathology; D061085:Agenesis of Corpus Callosum / Q000235:genetics / Q000473:pathology; D017809:Fatal Outcome; D005649:Fumarate Hydratase / Q000172:deficiency / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics / Q000473:pathology; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology; D009123:Muscle Hypotonia / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D011296:Prenatal Diagnosis; D011596:Psychomotor Disorders / Q000235:genetics* / Q000473:pathology
chemical_list: D005649:Fumarate Hydratase