- Niikawa-Kuroki syndrome
- Kabuki make up syndrome
Your QuestionMy child was diagnosed with Kabuki Syndrome. What is the life expectancy of this condition? How will the recent discovery of the gene related to Kabuki syndrome affect her?
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Most people with Kabuki syndrome have mild to moderate intellectual disability, although this varies considerably. Early speech and language delay is common and some language-related difficulties usually persist.Other medical problems may also be present. Congenital heart defects are common. Skeletal abnormalities may include a short and curved pinky finger (clinodactyly); spine abnormalities; and joint dislocations. Affected people often have weak muscle tone (hypotonia); feeding difficulties; seizures; and a small head size (microcephaly). Vision and hearing problems may also be present. Some affected children are more susceptible to infections, particularly ear infections.
The KMT2D gene gives the body instructions to make an enzyme called lysine-specific methyltransferase 2D, which is present in many parts of the body. This enzyme modifies proteins called histones, which attach to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (a process called methylation), the enzyme helps to control the activity of certain genes. It appears to activate certain genes that are important for development.
The KDM6A gene gives the body instructions to make an enzyme called lysine-specific demethylase 6A. This enzyme helps to remove methyl groups from certain histones. Like lysine-specific methyltransferase 2D, this enzyme also helps to control the activity of certain genes. Research suggests that the two enzymes work together.
Mutations in either of these genes result in the absence of the related enzyme, which disrupts histone methylation and impairs the activation of certain genes needed for normal development.
- Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. Am J Med Genet A. May, 2014; 164A(5):1289-1292.
- Kabuki syndrome. Genetics Home Reference. October, 2013; http://ghr.nlm.nih.gov/condition/kabuki-syndrome.
- Margaret Adam. Kabuki syndrome. Orphanet. April, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322.
- Marla J. F. O'Neill. Kabuki Syndrome. OMIM. 2016; http://www.ncbi.nlm.nih.gov/omim/147920.
- Adam MP, Hudgins L.. Kabuki syndrome: a review. Clinical Genetics. 2005; 67(3):209-219.