A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome.

ABSTRACT: Kindler syndrome (KS) is a rare subtype of epidermolysis bullosa that is inherited in an autosomal recessive manner with mutations in FERMT1. A number of mutations in FERMT1 have been identified in KS. The current study reported a 33-year-old Chinese man who exhibited a wide variety of clinical features, including formation of blisters, photosensitivity, cutaneous atrophy and poikiloderma, telangiectasia of the face and neck, contracture of the end limbs, nail dystrophy, muscle, eye and oral damage, tympanitis, esophagus narrowing, pneumothorax and palmoplantar keratoderma. The patient's parents were healthy and the patient had no siblings or children. Peripheral blood was obtained from the patient, his parents and 100 controls, who were admitted to the Dermatology Clinic of

SUBMITTER: Meng L 

PROVIDER: S-EPMC7506884 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature