Category Archives: Related Conditions

The Gene Hunt and Developmental Disabilities

17 April 2012 Today’s issue of nature includes and article titled “Gene hunt is on for mental disability: Pioneering clinical genome-sequencing projects focus on patients with developmental delay.” It describes some of the relatively recent  developments in the widespread use of partial- and full-genome testing for developmental disability syndromes. According to the article:

Joining the hunt is a UK-based programme called Deciphering Developmental Disorders, which expects to sequence 1,000 exomes [sections of DNA that are known to cause actual attributes in individuals] by the year’s end, with an ultimate goal of diagnosing up to 12,000 British children with developmental delay. A Canadian project called FORGE (finding of rare disease genes) aims to sequence children and families with 200 different disorders this year. And in the United States, the National Human Genome Research Institute in Bethesda, Maryland, recently funded three Mendelian Disorders Sequencing Centers that will apply genome sequencing to diagnosing thousands of patients with a wider range of rare diseases, including intellectual disability and developmental delay.

MECP2 Triplication Syndrome

As the name implies, some individuals with extra copies of the MECP2 gene, actually more than one extra copy. This affects a small percentage of cases. While these individuals are commonly identified as having MECP2 Duplication Syndrome, they are sometimes identified as having MECP2 Triplication Syndrome. Both labels are correct. They do, after all, have a duplicate copy of the MECP2 gene, but they also have an additional duplicate. Continue reading

Down syndrome & MECP2

Research published in the November 6, 2009 issue of Journal of Biological Chemistry suggests that MECP2 may play a role in producing the symptoms seen in Down syndrome. NOTE: This original post has been deleted because as listed in the comment below, the article upon which it was based was retracted due to research misconduct that involved false or manipulated data. Therefore, the role (if any) of MECP2 in producing Down syndrome symptoms remains unknown.


Dr. Zoghbi’s June 2009 NIH Lecture

Dr. Huda Zoghbi agve a great lecture on “Neurobiology of Rett syndrome and related disorders” in June 2009 for the National Institute of Health. parts of the one-hour lecture are technical but much of it in plain language. The lecture does a great job of describing how MECP2 Duplication Syndrome was discovered and some of the similarities and differences between MECP2 Duplication Syndrome. Its well worth watching. Continue reading

Is all autism related to the MECP2 Gene?

29 October 2009 – The relationship between MECP2 Duplication syndrome, Rett Syndrome, and autism appears to be a complex one.  Boys with MECP2 Duplication syndrome and girls with Rett syndrome clearly have autistic features associated with atypical MECP2 genetics. In some other cases of autism, atypical MECP2 genes also seem to be implicated. It has generally been believed, however, that most autism was not related to the MECP2 gene or its expression. Continue reading