Rare Genetic Mutations: Deciphering My Muscle Biopsy Results

  • Thread starter Thread starter will271989
  • Start date Start date
Click For Summary
SUMMARY

The discussion centers on a muscle biopsy revealing core myopathy, specifically minicore disease, and the subsequent genetic testing that identified three rare heterozygous mutations in the TTN gene. The mutations include C.2605A>T (P.thr869Ser), C.14931A>C (P.glu4977Asp), and C.88436C>T (P.Thr29479Met), all of which have low public allele frequencies, indicating their rarity. Conflicting predictions regarding the pathogenicity of these mutations necessitate further investigation, including family studies and genetic counseling, to determine their significance.

PREREQUISITES
  • Understanding of core myopathy and minicore disease
  • Familiarity with genetic testing and mutation analysis
  • Knowledge of the TTN gene and its role in muscle disorders
  • Experience with genetic counseling processes
NEXT STEPS
  • Research the implications of heterozygous mutations in the TTN gene
  • Learn about genetic counseling best practices for rare genetic mutations
  • Investigate family studies in genetic disease assessment
  • Explore amino acid substitution prediction tools and their reliability
USEFUL FOR

Individuals diagnosed with muscle disorders, geneticists, genetic counselors, and researchers focusing on rare genetic mutations and their implications in muscle pathology.

will271989
Messages
1
Reaction score
0
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.
 
Biology news on Phys.org
Closed on pending moderation.
 
This topic is something we cannot support here at PF. You need to see a specialist in genetic diseases. Thank you.
 

Similar threads

Emery-Dreifuss Muscular Dystrophy
  • · Replies 1 ·
Replies
1
Views
2K
Misformed amino acid as source of genetic mutation
  • · Replies 18 ·
Replies
18
Views
10K