Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype

Abstract The biallelic variations of the LNPK gene are associated with the “neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum” phenotype [MIM:618090] in the Online Mendelian Inheritance In Men database, and so far, two families have been identified in the literature. A third family with novel clinical features, who bears a novel variant in LNPK (NM_030650.3: c.770delA, p.D257fs*31) is described in the present study. The coexistence of psychomotor regression and neurodegeneration in brain magnetic resonance imaging was found for the first time in the present study, thanks to the long‐term follow‐up data on the case, which contributed to the phenotypic and mutation spectrum by means of the novel variation.