Why we're doing Jeans for Genes’ Bake It Blue and the 100 skips a day in August challenge.
We really respect organisations like Children's Medical Research Institute pioneering such important research in Australia finding cures, prevention and hope for families with young children facing health challenges.- One of the genes, MNX1, is associated with Currarino syndrome and was a good phenotype match with the ultrasound findings of Spina Bifida and Horseshoe Kidney.
- Other genes include EZH2 associated with Weaver syndrome and
- KMT2C associated with Kleefstra syndrome type 2; both syndromic intellectual disability conditions.
- SHH associated with holoprosencephaly spectrum is in the deleted region
- as is KCNH2 associated with long QT syndrome.
- In addition the SHH gene is associated with brain and midface abnormalities including choanal atresia and cleft palate.
- There were also genes in that missing region associated with heart arrhythmias which could have possibly resulted in sudden death before the age of 6 and syndromic forms of learning disabilities.
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