ESPE Abstracts (2019) 92 P3-158

ESPE2019 Poster Category 3 Growth and Syndromes (to include Turner Syndrome) (28 abstracts)

A Novel Variant of KAT6B Caused Say-Barber-Biesecker-Young-Simpson Syndrome

Ying Weng & Xiaoping Luo


Tongji Hospital, Wuhan, China


Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) is a rare and clinical well-described disease caused by de novo heterozygous mutations in KAT6B gene. Genitopatellar syndrome (GS) is also caused by the mutations of gene KAT6B and shares some common clinical symptoms with SBBYSS. The phenotypic spectrum caused by KAT6B is very broad that some patients cannot be classified as SBBYSS or GS. Herein, we report one de novo heterozygous KAT6B truncating variants c.5124delC (p.L1709Sfs*5) in a 5-year-old girl presenting with severe blepharophimosis, a bulbous nasal tip, dental anomalies, abnormally long thumbs and great toes, congenital cardiac defects, congenital hypothyroidism, and significantly impaired speech. The c.5124delC (p.L1709Sfs*5) variant affects to exon 18, where is the Ser rich region. The clinical and genetic charaterizaiton could contribute to the understanding of SBBYSS.

Volume 92

58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

European Society for Paediatric Endocrinology 

Browse other volumes

Article tools

My recent searches

No recent searches.