%0 Journal Article
%T 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.
%A Ahn JH
%A Oh SH
%A Park JK
%A Kim KH
%A Lee JE
%A Chung WY
%A Lee KS
%A Seo GH
%A Lee BL
%A Ahn JH
%A Oh SH
%A Park JK
%A Kim KH
%A Lee JE
%A Chung WY
%A Lee KS
%A Seo GH
%A Lee BL
%A Ahn JH
%A Oh SH
%A Park JK
%A Kim KH
%A Lee JE
%A Chung WY
%A Lee KS
%A Seo GH
%A Lee BL
%J Ann Clin Lab Sci
%V 52
%N 3
%D May 2022
%M 35777792
%F 1.18
%X 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.