Gunnar Buyse, Michela Di Michele, Anouck Wijgaerts, Sophie Louwette, Christine Wittevrongel, Chantal Thys, Kate Downes, Berten Ceulemans, Hild Van Esch, Chris Van Geet, Kathleen Freson
We describe a lethal combined nervous and reproductive systems disease in three affected siblings of a consanguineous family. The phenotype was characterized by visceroautonomic dysfunction (neonatal bradycardia/apnea, feeding problems, hyperactive startle reflex), severe postnatal progressive neurological abnormalities (including abnormal neonatal cry, hypotonia, epilepsy, polyneuropathy, cerebral gray matter atrophy), visual impairment, testicular dysgenesis in males and sudden death at infant age by brainstem-mediated cardiorespiratory arrest...
December 18, 2020: Human Molecular Genetics