I'm trying to find out info on a pdha1 mutation located at intron 8 . I don't understand the genetics test and want to research it in detail. I was hoping a smart student or gentecis savy formum member could clue me in a bit.

IVS8 31+15C>T was the finding when sequencing pdha1 gene.

 

This relates to a baby who has an undiagnosed disorder(suspected mitochondial).

It's the only genetic abnormality we've been able to find and virually the only clue we have for him.

The doctors consider it a variant likely non pathogenic, but I am not so sure. His symptoms match perfectly for pdha1 mutation typical of pdhc deficiency.

My goal is to try to find out more details on what the sequence of intron 8 relates to, such as what exons is tied to and what possible biochemical implications a mutation in ivs8 could cause.

I'm not a med student but I'm an avid researcher and hope some of you might find an interest in lending me a hand to understand what this unknown variant could possibly be doing.

Thanks

feel free to email me also at tradur@charter.net

tradur

I did find these links with some help.

http://www.ncbi.nlm.nih.gov/sites/varvu

http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?showRare=on&chooseRs=all&locusId=5160&mrna=NM_000284.3&ctg=NT_167197.1&prot=NP_000275.1&orien=forward&refresh=refresh

 

should there be a specific sequence record with every defect found? the finding was IVS8 31+15C>T for the pdha1 gene. Should the lab also be able to tell me which protein(s) it is refering to as well as the sequence record?