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Article

Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations.

American journal of medical genetics. Part A - 1 Dec 2012

Takanashi Jun-ichi, Okamoto Nobuhiko, Yamamoto Yuto, Hayashi Shin, Arai Hiroshi, Takahashi Yukitoshi, Maruyama Koichi, Mizuno Seiji, Shimakawa Shuichi, Ono Hiroaki, Oyanagi Reiki, Kubo Satomi, Barkovich A James, Inazawa Johji

Abstract excerpt

Heterozygous loss of function mutations of CASK at Xp11.4 in females cause severe intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH). However, the longitudinal clinical and radiological course of affected patients, including patterns of postnatal growth, has not been described. Neurodevelopmental and imaging information was retrospectively accrued for 16 Japanese (15...

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Source

Identifiers

PMID: 23165780
DOI: 10.1002/ajmg.a.35640

Genes

CASK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations.PMID 23165780Read ↗

Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females.Semantic proximity Read ↗

The eldest case of MICPCH with CASK mutation exhibiting gross motor regression.Semantic proximity Read ↗

Clinical and genetic spectrum of CASK-related disorders in Chinese patients.Semantic proximity Read ↗

A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report.Semantic proximity Read ↗

Phenotypic and molecular insights into CASK-related disorders in males.Semantic proximity Read ↗

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).Semantic proximity Read ↗

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.Semantic proximity Read ↗

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).Semantic proximity Read ↗

Phenotypic spectrum associated with CASK loss-of-function mutations.Semantic proximity Read ↗

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