The following information may help to address your question:
Could the mannose binding lectin (MBL) deficiency be associated with 10q22.3q23.2 microdeletion syndrome?
is caused by changes or mutations
in a single gene
. The location of MBL2 is 10q11.2 (the long arm of chromosome 10
, band 11.2). MBL deficiency is not a rare disorder. It is estimated that MBL deficiency affects 5% (though some researchers suggest as high as 40%) of the population.
MBL2 gene is thus located much closer to the center of chromosome
10 than the 10q22.3q23.2 microdeletion
so is not at least directly related. We were not able to find any reports mentioning a child with 10q22.3q23.2 microdeletion syndrome
or any microdeletion in that region also being affected by the MBL deficiency. This is likely due to the small number of known cases of 10q22.3q23.2 microdeletion syndrome
, because, since MBL deficiency is relatively common, it would not be surprising to find another child, like your daughter, who had both.
That said however, when very detailed molecular mapping
of various microdeletions in the 10q22-q24 region were performed, it was found that the deletions
were very complicated and involved rearrangement of other chromosomal material.
Therefore it is difficult to state conclusively that there is no connection at the molecular level as our scientific understanding just is not to that level at this time.
Last updated: 4/30/2016
Does mannose-binding lectin protein (MBL) deficiency increase the risk for autoimmune or other conditions?
Again, this is a very difficult question to answer definitively. It is known that not all those with MBL deficiency have symptoms. Therefore medical researchers believe deficiency of MBL is likely further influenced by other genetic and environmental factors
that are currently poorly understood.
Many of the published studies of the effects of MBL deficiency have conflicting findings, with one study finding a increase in risk or severity associated with MBL, while another finds no effect or even a decreased risk.
Several authors have suggested this is because those who are defined as having MBL deficiency differs markedly between the studies.
Overall, however, there seems to be agreement that increased susceptibility
to infection is generally seen in patients with MBL deficiency when additional factors that compromise the immune system
Since the MBL protein
is involved in the inflammatory process, its deficiency has been studied in relation to autoimmune diseases
. These are among the most conflicting studies, especially concerning the relation to rheumatoid arthritis
, crohns disease
. Low levels of MBL do seem overall to increase the risk for developing systemic lupus erythematosus
(SLE or lupus). However, low levels of MBL may lower damage after cardiac, renal or cerebral ischemia and decrease the risk of organ
rejection (though increase the risk of infection after transplantation).
Last updated: 4/30/2016
What are the features and related conditions of 10q22.3q23.2 microdeletion syndrome?
The features of 10q22.3q23.2 microdeletion syndrome appear to be quite variable. Most commonly individuals with this microdelation have mild distinct facial features and speech and language delay, but the latter ranges from normal to severe. About 50% of known cases have had a congenital heart defect
. Some children have been found to have attention deficit hyperactivity disorder
and a few have autism spectrum disorder
. Less commonly cerebellar and breast developmental abnormalities may be present.
In addition to the features listed above, there has been concern that since the BMPR1A
gene (located at 10q22.3) may be affected by this microdeletion, that individuals with this microdeletion may be at a higher risk of developing juvenile polyposis syndrome
(JPS). However, published reports did not find this to be the case. Further studies indicate that PTEN
(located at 10q23.3 which is just past your daughter's deletion) must also be affected for there to be an increased risk of JP. However medical researchers still suggest screening
for JPS through adolescence is advised. Such screening may include a complete blood count, colonoscopy
and upper gastrointestinal endoscopy
beginning at 15 years of age or at initial symptoms such as gastrointestinal bleeding.
It is important to understand that all of this information comes from studied cases. Case reports document clinical findings associated with individual cases. The clinical findings documented in these case reports are based on specific individuals and may differ from one affected person to another. This is especially true with chromosomal microdeletions, as the exact breakpoints (and thus affected genes) varies for each individual.
Last updated: 4/30/2016
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