Hello, i´m studying about Dubowitz syndrome to make a brief thesis.
Reading some bibliographies, i have found some affected genes like NSUN2,LIG4 and PCNT, Also we have reports about deletions involving 13q,3 14q32.34 and 17q24.2,5.
But i contacted a family with one diagnosed case of Dubowitz, they write that he have a deletion on chromosome 3. this left me a little confused, and that's why I ask if, there are cases of disease on chromosome 3?
Thank You!
HI Alejandro,
It is not clear why you're confused.
- Although a number of gene defects and deletions in the genomic regions you mentioned have been associated with Dubowitzs syndrome (DS) does not necessarlily mean that all DS cases need to be affected in any of those alleles. Your case may involve a gene coding for a protein directly or indirectly associated with the biochemical process in which other DS proteins play a role.
- the deletion on Chr3 for your Dubowitzs may include a novel DS gene or a regulatory unit of a DS gene. Alternatively, the Chr3 deletion is unrelated to DS and the etiology still needs to be determined. It is important to know how they arrived to the conclusion that Chr3 del. is associated with DS!
Regards,
Najim
Hi
As rightly mentioned by Najim, we need to know method of detection of deletion 3, was it a sole anomaly? Was it de novo or familial? Is the diagnosis work-in-progress, established, or suspected based on clinical history? Chances are, a case with heterogenous presentation [not uncommon in genetic conditions], or a novel sub-entity. Best regards!
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