{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T09:11:29Z","timestamp":1769505089448,"version":"3.49.0"},"reference-count":23,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,6,7]],"date-time":"2022-06-07T00:00:00Z","timestamp":1654560000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants in <jats:italic>CASK<\/jats:italic>, an X\u2010linked gene that plays a role in brain development and synaptic function, are the cause of both microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X\u2010linked intellectual disability (XLID) with or without nystagmus. MICPCH is caused by loss of function variants in <jats:italic>CASK<\/jats:italic>, typically affects females, and is associated with moderate\u2010to\u2010severe intellectual disability (ID). Additional findings, present in about one\u2010third of individuals, include feeding difficulties, ophthalmologic issues, hypertonicity, epilepsy, and sensorineural hearing loss. Only a few affected males with MICPCH phenotype have been reported and most have had profound developmental disability and intractable epilepsy. The XLID phenotype is typically caused by missense variants and most often manifests in males; carrier females are mildly affected or unaffected. Nystagmus is often present. In total, over 175 patients have been reported in the literature. We now report an additional 11 patients with pathogenic variants in <jats:italic>CASK<\/jats:italic> that expand these phenotypes and reported genotype\u2013phenotype correlations.<\/jats:p>","DOI":"10.1002\/ajmg.a.62863","type":"journal-article","created":{"date-parts":[[2022,6,7]],"date-time":"2022-06-07T09:54:45Z","timestamp":1654595685000},"page":"2617-2626","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Pathogenic variants in <i>CASK<\/i>: Expanding the genotype\u2013phenotype correlations"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1370-6195","authenticated-orcid":false,"given":"Holly","family":"Dubbs","sequence":"first","affiliation":[{"name":"Division of Neurology Children's Hospital of Philadelphia  Philadelphia Pennsylvania 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