TY - JOUR AB - 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 Shanghai Skin Disease Hospital, Shanghai, China. A multi‑gene panel test consisting of 541 genetic loci of monogenic hereditary diseases was performed. The results identified one novel homogenous mutation in the patient: c.1885_1901del (p.Val629fs) on exon 15 in FERMT1. The patient's parents exhibited heterogeneous identical mutations. This mutation was absent in the control group. The results of the multi‑gene panel test were further verified by Sanger sequencing. Based on the clinical manifestations and genetic analysis, KS was diagnosed in the patient. The current study reported a Chinese case of KS with one novel mutation c.1885_1901del in FERMT1 and presented a brief summary of all pathogenic mutations in FERMT1 that have been reported in KS between 1984 and May 2020 via a PubMed literature search. AD - Department of Dermatological Mycology, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, P.R. China Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, P.R. China Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China AU - Meng,Li AU - Yang,Xiaoqin AU - Wu,Yuhao AU - Zhao,Zijun AU - Yang,Lianjuan  AU - Li,Ming AU - Wang,Xiuli AU - Zhang,Guolong DA - 2020/11/01 DO - 10.3892/etm.2020.9233 IS - 5 JO - Exp Ther Med KW - Kindler syndrome fermitin family member 1 mutation inherited epidermolysis bullosa Chinese PY - 2020 SN - 1792-0981 1792-1015 SP - 103 ST - A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome T2 - Experimental and Therapeutic Medicine TI - A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome UR - https://doi.org/10.3892/etm.2020.9233 VL - 20 ER -