A case of SBBYSS syndrome caused by KAT6B gene variant / 中华医学遗传学杂志
Nan LYU; Qing SHANG; Jingjie LI; Caiyun MA; Dongxiao LI.
Chinese Journal of Medical Genetics
; (6): 727-730, 2019.
Artículo
en Zh
| WPRIM | ID: wpr-776819
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.
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