{Reference Type}: Journal Article
{Title}: 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.
{Author}: Ahn JH;Oh SH;Park JK;Kim KH;Lee JE;Chung WY;Lee KS;Seo GH;Lee BL;Ahn JH;Oh SH;Park JK;Kim KH;Lee JE;Chung WY;Lee KS;Seo GH;Lee BL;Ahn JH;Oh SH;Park JK;Kim KH;Lee JE;Chung WY;Lee KS;Seo GH;Lee BL;
{Journal}: Ann Clin Lab Sci
{Volume}: 52
{Issue}: 3
{Year}: May 2022
{Factor}: 1.18
{Abstract}: Pontocerebellar hypoplasia is a heterogeneous group of rare genetic neurodevelopmental disorders marked by early degeneration of the cerebellum and brainstem. Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (MICPCH; MIM#300749) is a disorder caused by pathogenic loss-of-function variants in CASK CASK gene plays a critical role in brain development by controlling neuronal development and synapse formation. This report describes a 6-month-old Korean female infant with global developmental delay, sensorineural hearing loss, axial hypotonia with hypertonia of extremities, progressive microcephaly, and pontocerebellar hypoplasia. On whole exome sequencing, the patient had a novel heterozygous frameshift CASK variant, NM_003688.3:c.535del (NP_003679.2:p. Arg179Valfs*22). This report highlights the importance of considering CASK pathogenic variants in patients with global developmental delay, progressive microcephaly, and pontocerebellar hypoplasia and the genotype-phenotype relationships.