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
in Zh
| WPRIM
| ID: wpr-776819
Responsible library:
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.
Full text:
1
Database:
WPRIM
Main subject:
Phenotype
/
Blepharophimosis
/
Facies
/
Congenital Hypothyroidism
/
Histone Acetyltransferases
/
DNA Copy Number Variations
/
Genetics
/
Heart Defects, Congenital
/
Joint Instability
/
Intellectual Disability
Type of study:
Prognostic_studies
Limits:
Child
/
Female
/
Humans
/
Pregnancy
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Document type:
Article