hrp0092p3-158 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

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

Weng Ying , Luo Xiaoping

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.L17...

hrp0089p3-p262 | Growth & Syndromes P3 | ESPE2018

Deletion of 12q12 Increases the Risk of Growth Retardation and Intellectual Disability

Weng Ying , Luo Xiaoping , Hou Ling

Single-nucleotide polymorphism (SNP) arrays have been widely used to identify novel genomic imbalances. Many of these genomic imbalances have been confirmed to interact with developmental delays, intellectual disabilities and congenital defects. Here, we identified a Chinese girl with a 3.18 Mb deletion at 12q12 (human genome build 19: 43,418,911–46,601,627). Deletions at 12q12 are extremely rare chromosomal imbalances; only five cases involving a deletion of this type ha...