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.

doi:10.1186/1750-1172-7-18

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Article

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.

Orphanet journal of rare diseases - 27 Mar 2012

Burglen Lydie, Chantot-Bastaraud Sandra, Garel Catherine, Milh Mathieu, Touraine Renaud, Zanni Ginevra, Petit Florence, Afenjar Alexandra, Goizet Cyril, Barresi Sabina, Coussement Aurélie, Ioos Christine, Lazaro Leila, Joriot Sylvie, Desguerre Isabelle, Lacombe Didier, des Portes Vincent, Bertini Enrico, Siffroi Jean-Pierre, de Villemeur Thierry Billette, Rodriguez Diana

Abstract excerpt

BACKGROUND: Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. According to clinical features, seven subtypes of PCH have been described, PCH type 2 related to TSEN54 mutations bein...

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Identifiers

PMID: 22452838
DOI: 10.1186/1750-1172-7-18
PMCID: PMC3351739

Genes

CASK
TSEN54

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22452838-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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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.PMID 22452838Read ↗

Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.Semantic proximity Read ↗

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

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

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.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 ↗

Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.Semantic proximity Read ↗

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

A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia.Semantic proximity Read ↗

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

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.Semantic proximity Read ↗

Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.Semantic proximity Read ↗

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