Clinical and genetic analysis of a patient with Mowat-Wilson syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 465-468, 2021.
Article
em Zh
| WPRIM
| ID: wpr-879604
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To summarize the clinical phenotype and genotype of a Chinese child affected with Mowat-Wilson syndrome (MWS).@*METHODS@#Clinical data of the patient were collected. The patient was analyzed by whole-exome sequencing (WES) as well as Sanger sequencing.@*RESULTS@#The patient was a male infant with recurrent fever and slow growth. He also had characteristic facies, recurrent spasm, and growth retardation. WES revealed that he has carried a heterozygous nonsense c.2609C>G (p.Ser870X) variant of the ZEB2 gene (30% mosaicism). Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+PS1+PS2+PM2).@*CONCLUSION@#The c.2609C>G variant of the ZEB2 gene probably underlay the MWS in this child. The mosaicism of the variant may explain his mild symptoms.
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Fácies
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Doença de Hirschsprung
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Deficiência Intelectual
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Microcefalia
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Mutação
Tipo de estudo:
Guideline
/
Prognostic_studies
Limite:
Child
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Humans
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Infant
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Male
Idioma:
Zh
Ano de publicação:
2021
Tipo de documento:
Article