Neonatal Kabuki syndrome: a report of two cases

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 of c.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. Key words: Abnormalities, multiple; Face; Hematologic diseases; Vestibular diseases; DNA-binding proteins; Neoplasm proteins; Infant, newborn