Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

[kabuki syndrome]

Kabuki syndrome is a rare , multiple congenital anomaly /mental retardation syndrome caused by MLL 2 point mutations and KDM 6 A microdeletions . We screened a large cohort of MLL 2 mutation -negative patients for MLL 2 and KDM 6 A exon (s ) microdeletion and microduplication . Our assays failed to detect such rearrangements in MLL 2 as well as in KDM 6 A gene . These results show that these genomic events are extremely rare in the Kabuki syndrome , substantiating its genetic heterogeneity and the search for additional causative gene (s ).

Diseases
Validation

Diseases presenting "mental retardation" symptom

achondroplasia

alexander disease

alpha-thalassemia

aniridia

aromatase deficiency

canavan disease

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

cystinuria

dentin dysplasia

familial hypocalciuric hypercalcemia

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

monosomy 21

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated