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Recently, homozygous variants in LNPK were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy and nonspecific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of LNPK-related disorder. Exome or genome sequencing was carried out in 11 families. Thorough clinical and neuroradiological evaluation was performed for all the affected individuals, including review of previously reported patients. We identified 12 distinct homozygous loss-of-function variants in 16 individuals presenting with moderate to profound developmental delay, cognitive impairment, regression, refractory epilepsy and a recognizable neuroimaging pattern consisting of corpus callosum hypoplasia and signal alterations of the forceps minor (\u2018ear-of-the-lynx\u2019 sign), variably associated with substantia nigra signal alterations, mild brain atrophy, short midbrain and cerebellar hypoplasia\/atrophy. In summary, we define the core phenotype of LNPK-related disorder and expand the list of neurological disorders presenting with the \u2018ear-of-the-lynx\u2019 sign suggesting a possible common underlying mechanism related to endoplasmic reticulum-phagy dysfunction.<\/jats:p>","DOI":"10.1093\/braincomms\/fcad222","type":"journal-article","created":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T03:36:01Z","timestamp":1692243361000},"source":"Crossref","is-referenced-by-count":6,"title":["Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies"],"prefix":"10.1093","volume":"5","author":[{"given":"Andrea","family":"Accogli","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Specialized Medicine, McGill University , Montreal H3G 1A4 , Canada"},{"name":"Department of Human Genetics, McGill University , Montreal, QC H3A 0C7 , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha S","family":"Zaki","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre , Cairo 12622 , Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Al-Owain","sequence":"additional","affiliation":[{"name":"Department of Medical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center , Riyadh 11211 , Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mansour Y","family":"Otaif","sequence":"additional","affiliation":[{"name":"Department of Pediatric, Neurology Section, Abha Maternity and Childern Hospital , Abha 62521 , Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Jackson","sequence":"additional","affiliation":[{"name":"Division of Evolution, Infection and Genomics, School of 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