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 .

Diseases
Validation

Diseases presenting "early diagnosis" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

adrenomyeloneuropathy

alexander disease

allergic bronchopulmonary aspergillosis

aromatase deficiency

carcinoma of the gallbladder

cholangiocarcinoma

classical phenylketonuria

coats disease

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cowden syndrome

cushing syndrome

cutaneous mastocytosis

cystinuria

dentin dysplasia

dentinogenesis imperfecta

dracunculiasis

erdheim-chester disease

erythropoietic protoporphyria

esophageal carcinoma

esophageal squamous cell carcinoma

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

inclusion body myositis

kabuki syndrome

kallmann syndrome

kindler syndrome

krabbe disease

locked-in syndrome

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

omenn syndrome

oral submucous fibrosis

papillon-lefèvre syndrome

phenylketonuria

primary effusion lymphoma

primary hyperoxaluria type 1

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

scrub typhus

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

thoracic outlet syndrome

triple a syndrome

typhoid

von hippel-lindau disease

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

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