Abstract Search

hrp0092p3-154 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

NSD2 Mutation in a Family with a New Intellectual Disability and Short Stature Syndrome: a 7.5 Years Follow-Up

Hu Xuyun , WU Di , Li Yuchuan , Gong Chunxiu , Shen Yiping

Wolf-Hirschhorn syndrome is a genomic disorder caused by 4p16.3 deletion with facial dysmorphology, growth retardation, developmental/intellectual delay and seizures. After 165 kb critical region encompassing NSD2 was identified, most recently, three NSD2 loss of function variants was uncovered in patients with overlapping phenotype with Wolf-Hirschhorn syndrome. In our study, a NSD2 variant, c.1577dupG (p.Asn527fs*14) was identified in two patie...

0 shares

hrp0089p3-p229 | Growth & Syndromes P3 | ESPE2018

A Novel Heterozygous Pathogenic Variant in PORCN Gene Causing Focal Dermal Hypoplasia with Short Stature: Case Report and Literature Review

Wu Di , Hu Xuyun , Li Xiaoqiao , Wei Liya , Su Chang , Chen Jiajia , Qin Miao , Gong Chunxiu , Shen Yiping

Objective: To explore the clinical features and the genetic cause of a multiple malformation patient with short stature.Methods: The clinical data was collected in Beijing Childrens Hospital in November 2017. The disease-causing variant was identified using exome sequencing and confirmed with Sanger sequencing. Related literature was searched from Wanfang and Pubmed databases using the key word of PORCN gene to identify the clinical fea...

0 shares

ePoster

ESPE Abstracts

NSD2 Mutation in a Family with a New Intellectual Disability and Short Stature Syndrome: a 7.5 Years Follow-Up

A Novel Heterozygous Pathogenic Variant in PORCN Gene Causing Focal Dermal Hypoplasia with Short Stature: Case Report and Literature Review

BiosciAbstracts