Clinical and genetic analysis of a child with mental retardation and microcephaly with pontine and cerebellar hypoplasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 985-988, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-921982
ABSTRACT
OBJECTIVE@#To analyze the clinical phenotype and pathogenic variant in a child diagnosed with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).@*METHODS@#Clinical phenotype of the child was reviewed. Whole exome sequencing was carried out for the child. Candidate variant was verified by Sanger sequencing of the family member.@*RESULTS@#The proband manifested dyskinesia, development delay, cerebellar hypoplasia and bilateral hearing impairment. WES results revealed that the proband has carried a pathogenic c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene, which was verified by Sanger sequencing to be a de novo variant.@*CONCLUSION@#The c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene probably underlay the MICPCH in the proband. Above finding has provided a basis for genetic counseling. WES should be considered for the diagnosis of neurological dysplasia.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Família
/
Cerebelo
/
Deficiências do Desenvolvimento
/
Deficiência Intelectual Ligada ao Cromossomo X
/
Microcefalia
/
Malformações do Sistema Nervoso
Limite:
Criança
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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