A 52-year-old female asked:
Do genes with kabuki indicators overlap with congenital disorders of glycosylation or lysosome storage diseases? Or are they all in separate areas?
1 doctor answer
Dr. Brad Eilerman answered
19 years experience in Endocrinology
Kabuki: The genetics of kabuki are unclear with some cases thought to be x-linked and others following an autosomal dominant pattern of inheritence. It is estimated that 2/3 are related to a gene on chromosome 12 (mll2) which may be responsible for variable gene expression (epigenetics). While epigenetic variation opens the door to many disorders, none of these directly related to glycosylation or lsd.
Answered on Dec 9, 2013
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