We report a 13-year-old male patient with severe orthopedic problems including features
of a connective tissue disorder and a heterozygous c.305T > A variant found within
exon 3 of the autosomal dominant collagen (COL5A1) gene causing the classic Ehlers–Danlos syndrome. This variant has not been reported
previously and identified as having an unknown clinical significance but classified
as trending damaging per in silico prediction with high conservation among species.
Our patient's father had the same gene variant and similar features of stretchable
skin, easy bruising, and multiple joint dislocations. The father had unexplained heart
failure requiring cardiac transplantation at 43 years of age.
Keywords
classic Ehlers–Danlos syndrome with
COL5A1 gene variant - joint hypermobility - poor skin healing and easy bruising - heart
transplant
