Vascular Ehlers ‐Danlos syndrome: A null COL3A1 variant found in a patient with loin pain without marked cutaneous features (case report)

Electropherogram produced by Sanger sequencing showing heterozygous COL3A1 variant NM_000090.4:c.712C 〉T p.(Arg238Ter) (indicated by arrow) detected in the proband. Key Clinical MessagePatients with null variants may have milder vascular Ehlers-Danlos syndrome, presenting with seemingly non-specific complaints and subtle cutaneous features that may be missed. A high index of suspicion and early genetic testing (aided by next-generation sequencing) were crucial for prevention of life-threatening complications in the patient and family members.

Source: Clinical Case Reports - February 9, 2024 Category: General Medicine Authors: Shreenidhi Ranganatha Subramaniam, Lam Fung Yeung, L. Y. Lois Choy, Jeffrey Sung Shing Kwok Tags: CASE REPORT Source Type: research