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

[kabuki syndrome]

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 .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 2006 122 ). Molecular analysis of the known causative genes of KS , KMT 2 D /MLL 2 and KDM 6 A , was performed through MiSeq-targeted sequencing platform . All mutations identified were validated by Sanger sequencing protocols .Mutations in KMT 2 D gene were identified in 10 /16 (62 %) of the patients , whereas none of the patients had KDM 6 A 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 left-sided cardiac abnormalities , skeletal , renal and anorectal malformations and hypertricosis .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 .

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kabuki syndrome

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