A case of SBBYSS syndrome caused by KAT6B gene variant / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 727-730, 2019.
Article
em Zh
| WPRIM
| ID: wpr-776819
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To analyze the clinical and molecular genetics features of a family affected with Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS).@*METHODS@#High-throughput sequencing was used to detect copy number variations (CNVs) and pathogenic variant within the whole exome of the affected child.@*RESULTS@#No pathogenic CNV was found in the child, while exome sequencing identified a heterozygous c.3367_c.3370delAGAA (p.Arg1123Argfs*6) frameshifting variant in the exon 16 of the KAT6B gene. The same variant was not found in either parent.@*CONCLUSION@#The c.3367_c.3370delAGAA (p.R1123Rfs*6) probably underlies the disease in the affected child. Above finding has facilitated genetic counseling and prenatal diagnosis for the family.
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Fenótipo
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Blefarofimose
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Fácies
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Hipotireoidismo Congênito
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Histona Acetiltransferases
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Variações do Número de Cópias de DNA
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Genética
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Cardiopatias Congênitas
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Instabilidade Articular
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Deficiência Intelectual
Tipo de estudo:
Prognostic_studies
Limite:
Child
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Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Article