What is 9q34 deletion syndrome?
Medical genetics. 9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability.
What is EHMT1 gene?
EHMT1 (Euchromatic Histone Lysine Methyltransferase 1) is a Protein Coding gene. Diseases associated with EHMT1 include Kleefstra Syndrome 1 and Kleefstra Syndrome Due To A Point Mutation. Among its related pathways are Cellular Senescence and Chromatin organization.
What chromosome is affected in Kleefstra syndrome?
The inheritance of Kleefstra syndrome is considered to be autosomal dominant because a deletion in one copy of chromosome 9 in each cell or a mutation in one copy of the EHMT1 gene is sufficient to cause the condition.
What causes Kleefstra syndrome 2?
Kleefstra syndrome is caused by a mutation in a gene called EHMT1 or the deletion of a specific region of chromosome 9 that includes EHMT1. Other names for Kleefstra syndrome include 9q-syndrome, 9q34. 3 deletion syndrome, and chromosome 9q deletion syndrome.
What is 9p deletion syndrome?
The 9p deletion syndrome is characterized by trigonocephaly, moderate to severe mental retardation, low-set, malformed ears, and dysmorphic facial features, such as up-slanting palpebral fissures and a long philtrum.
Is Kleefstra syndrome fatal?
Psychiatric care along with behavioral intervention therapy may be needed. Cardiac screening (for the presence of arrhythmias) as well as intestinal and renal/urologic monitoring is recommended. Medical follow-up is life-long. The prognosis of KS is variable but in most cases it is not a life-threatening disease.
Can Kleefstra syndrome be cured?
Researchers at the RIKEN Cluster for Pioneering Research (CPR) in Japan report that Kleefstra syndrome, a genetic disorder that leads to intellectual disability, can be reversed after birth in a mouse model of the disease.
What causes monosomy 9p or Alfi’s syndrome?
In most cases, Chromosome 9, Partial Monosomy 9p appears to be caused by spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).
How many cases of Kleefstra syndrome are there?
There are not yet reliable figures stating how many people have Kleefstra syndrome. However, a good prediction can be made based on the prevalence of other genetic syndromes associated with intellectual disability; it is estimated that as many as 1,200,000 individuals are affected by Kleefstra syndrome.