Author(s)

Golder N. Wilson^1*, Vijay S. Tonk²

¹Department of Pediatrics, Texas Tech University Health Science Center, Lubbock and KinderGenome Medical Genetics, Dallas, TX, USA.
²Departments of Pediatrics, Obstetrics & Gynecology, and Pathology, Texas Tech University Health Science Center, Lubbock, TX, USA.

Purpose: To alert the medical community that whole exome sequencing can find accessory gene changes in well-known syndromes that alter preventive health care and management. Meaning: A collagen type VI gene change adds muscle weakness, hypermobility, and dysautonomia concerns to usual management considerations for Down syndrome. Methods: Commercial whole exome sequencing combined with clinical interpretation of DNA sequence change added new considerations to patient management and parental counsel. Results: An 11-year-old child with the trisomy 21 form of Down syndrome who was evaluated for extraordinary joint laxity had a heterozygous collagen type VI aspartic to glutamic acid (COL6A3 c.6360 C>G p.Asp2120Glu) gene change found by whole exome sequencing. The DNA variant was qualified as having strong relevance to the enhanced hypermobility due to prior association of collagen 6 gene changes with myopathy. Conclusions: Dual diagnosis of Ehlers-Danlos syndrome was not assigned because the patient lacked criteria like bruising, unusual scars, or selected dysautonomia symptoms. The concept of a hypermobility spectrum offers advantages for management of its constituent conditions if clinically guided ascertainment and DNA diagnostics are employed.

Hypermobility Spectrum Disorders, Down Syndrome, Ehlers-Danlos Syndrome, DNA Variant Qualification, Collagen Type VI DNA Change

Wilson, G. and Tonk, V. (2022) Demon Genes May Deform Common Syndromes: Collagen VI Gene Change in Down Syndrome Unifies the Medical and Molecular Approach to Hypermobility Disorders. Journal of Biosciences and Medicines, 10, 1-7. doi: 10.4236/jbm.2022.103001.