Kabuki syndrome: Clinical and molecular diagnosis in the first year of life

Research output: Contribution to journalArticlepeer-review


Objective: To review the clinical and molecular genetic characteristics of 16 patients presenting a suspected diagnosis of Kabuki syndrome (KS) in the first year of life, to evaluate the clinical handles leading to a prompt diagnosis of KS in newborns. Clinical diagnosis of KS can be challenging during the first year of life, as many diagnostic features become evident only in subsequent years. Methods: All patients were clinically investigated by trained clinical geneticists. A literature review was performed using the Pubmed online database and diagnostic criteria suggested by DYSCERNE-Kabuki Syndrome Guidelines (2010) were used (a European Network of Centres of Expertise for Dysmorphology, funded by the European Commission Executive Agency for Health and Consumers (DG Sanco), Project 2006122). Molecular analysis of the known causative genes of KS, KMT2D/MLL2 and KDM6A, was performed through MiSeq-targeted sequencing platform. All mutations identified were validated by Sanger sequencing protocols. Results: Mutations in KMT2D gene were identified in 10/16 (62%) of the patients, whereas none of the patients had KDM6A mutations. Facial dysmorphisms (94%), feeding difficulties (100%) and hypotonia (100%) suggested the clinical diagnosis of KS. No significative differences in terms of facial features were noticed between mutation positive and negative patients of the cohort. Brachydactyly, joint laxity and nail dysplasia were present in about 80% of the patients. Other congenital anomalies were most commonly present in the mutated group of patients, including leftsided cardiac abnormalities, skeletal, renal and anorectal malformations and hypertricosis. Conclusions: We present an overview of patients with KS diagnosed during the first year of life. Early diagnosis is serviceable in terms of clinical management and for targeted genetic counselling.

Original languageEnglish
Pages (from-to)158-164
Number of pages7
JournalArchives of Disease in Childhood
Issue number2
Publication statusPublished - Feb 1 2015

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)


Dive into the research topics of 'Kabuki syndrome: Clinical and molecular diagnosis in the first year of life'. Together they form a unique fingerprint.

Cite this