How scientists sorted out confusing gene errors in a rare brain disorder
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Not medical advice. For informational purposes only. Always consult a healthcare professional. Terms
Some kids have brain problems because their bodies can’t use creatine properly, which is important for brain and muscle power. This happens due to broken genes. Scientists made special rules to figure out which gene changes are truly harmful.
Surprising Findings
Missense variants are the most common type across all three genes (GAMT, GATM, SLC6A8), despite the rarity of these disorders.
Many assume rare diseases are caused by dramatic gene deletions or truncations, but here, subtle 'spelling mistakes' (missense) dominate.
Practical Takeaways
If your child has unexplained developmental delays, ask about creatine deficiency testing — especially urine creatine:creatinine ratio or brain MRS.
Not medical advice. For informational purposes only. Always consult a healthcare professional. Terms
Some kids have brain problems because their bodies can’t use creatine properly, which is important for brain and muscle power. This happens due to broken genes. Scientists made special rules to figure out which gene changes are truly harmful.
Surprising Findings
Missense variants are the most common type across all three genes (GAMT, GATM, SLC6A8), despite the rarity of these disorders.
Many assume rare diseases are caused by dramatic gene deletions or truncations, but here, subtle 'spelling mistakes' (missense) dominate.
Practical Takeaways
If your child has unexplained developmental delays, ask about creatine deficiency testing — especially urine creatine:creatinine ratio or brain MRS.
Publication
Journal
Molecular genetics and metabolism
Year
2024
Authors
Jennifer Goldstein, Amanda Thomas-Wilson, E. Groopman, Vimla Aggarwal, Simona Bianconi, Raquel Fernandez, Kim Hart, Nicola Longo, Nicole Liang, Daniel Reich, Heidi Wallis, Meredith Weaver, Sarah Young, S. Mercimek-Andrews
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Claims (6)
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