Rare Genetic mutations

  • Thread starter will271989
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  • #1
I have a muscle disorder,My muscle biopsy revealed i have a core myopathy potentially remarkable for showing minicore disease and had to have genetic testing done to locate the mutation causing the core myopathy. The results of the genetic testing are quite... interesting. I was hoping you guys might be able to understand it and help me decode it to find out just how interesting it really is.



The genetic testing found 3 very rare heterozygous mutations which have never been reported in literature before all in a single gene. They are unsure if they are causing a disease however if they were not my muscle biopsy would have been normal is the way i see it?.



Mutation number 1: Heterozygous-TTN Gene- Sequence variant C.2605A>T (Predicated effect, P.thr869Ser) Public allele frequency data base as 5 out of 121,000 alleles indicating this mutation is rare. amino acid subsitution prediction programs provide conflicting results regarding pathogenicity.



Mutation number 2: Heterozygous- TTN Gene- sequence variant (C.14931A>C),(predicated effect, P.glu4977Asp), public allele frequency database as 12 of 120,000 alleles indicating is is rare. ammino acid substitution predictions programs provide conflicting results regarding pathogenicity.



Mutation Number 3: Heterozygous, TTN Gene, Sequence variant designated (c.88436C>T),(Predicated effect (p.Thr29479Met), public alle frequency database as 7 of 120,000 alleles indicating it is rare, Amino acid substitution predication programs predicit the change to be "DELETERIOUS".



A family study may help clarify the significance, such testing will be provided free of charge, genetic counseling is recommended.
 

Answers and Replies

  • #3
jim mcnamara
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This topic is something we cannot support here at PF. You need to see a specialist in genetic diseases. Thank you.
 

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