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[A case of SBBYSS syndrome caused by KAT6B gene variant]
Nan Lyu1, Qing Shang, Jingjie Li
1Rehabilitation Center Children's Hospital Affiliated to Zhengzhou University, Children's Hospital of Henan Province, Zhengzhou Children's Hospital, Zhengzhou, Henan 450003, China. li_dongxiao@sina.com.
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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