Neonatal Kabuki syndrome: a report of two cases

VernacularTitle:新生儿Kabuki综合征二例
Author: Wenxing JIANG ¹ ; Liping CHEN ; Lijun YI ; Hong LI ; Lin YANG ; Bingbing WU
Author Information

1. 江西省儿童医院NICU
Keywords: Abnormalities,multiple; Face; Hematologic diseases; Vestibular diseases; DNA-binding proteins; Neoplasm proteins; Infant,newborn
From: Chinese Journal of Perinatal Medicine 2019;22(6):424-428
CountryChina
Language:Chinese
Abstract: This paper reported the diagnosis and treatment of two neonates with Kabuki syndrome (KS).Neither of them had typical facial features of KS during the neonatal period,but poor response,abnormal appearance and multiple organ dysplasia were observed in both.Case 1 was lost to follow up after discharge,while typical KS facial features were gradually appeared in Case 2 including eversion of lower lateral eyelids,arched eyebrows,sparse eyebrow arch,flattened nasal tip,prominent ears,during a three-month follow-up after birth.Next-generation sequencing revealed that both neonates were KS caused by lysine methyltransferase 2D (KMT2D) gene mutation,of which case 1 had a heterozygous deletion mutation ofc.13895delC (p.P4632HfsTer8) in KMT2D gene,while case 2 had a heterozygous repeat mutation of c.12809dupA (p.T4271Dfs*63) in KMT2D gene.Both cases were defined as de novo mutations and the one carried by case 2 was a newly discovered pathogenic mutation.