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Chu et al. Rare Dis Orphan Drugs J 2023;2:2 Rare Disease and
DOI: 10.20517/rdodj.2022.25
Orphan Drugs Journal

Case Report Open Access

A report and review of the recurrent c.811C>T
variant and mutation spectrum of Kindler syndrome

in East Asians: a diagnostic odyssey of 2 weeks
versus 49 years

1,#
2,#
3
1
1
Annie Tsz Wai Chu , Joshua Chun Ki Chan , Jasmine Lee Fong Fung , Wenshu Tang , Mianne Lee , Man
2
4,5
2
3
1
Ho Chung , Geoffrey Yu , Vivien Li , Calvin Tik Hei Ng , Hong Kong Genome Project , Brian Hon Yin
Chung 1,3
1
Hong Kong Genome Institute, Hong Kong Special Administrative Region, Hong Kong, China.
2
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong Special Administrative Region, Hong
Kong, China.
3
Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The
University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
4
Department of Medicine, Queen Mary Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
5
Department of Dermatology, Queen Mary Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
#
Authors contributed equally and considered joint first authors.
Correspondence to: Dr. Brian Hon Yin Chung, Hong Kong Genome Institute, 2/F, Building 20E, Hong Kong Science Park, Hong
Kong, China. E-mail: bhychung@genomics.org.hk
How to cite this article: Chu ATW, Chan JCK, Fung JLF, Tang W, Lee M, Chung MH, Yu G, Li V, Ng CTH, Hong Kong Genome
Project, Chung BHY. A report and review of the recurrent c.811C>T variant and mutation spectrum of Kindler syndrome in East
Asians: a diagnostic odyssey of 2 weeks versus 49 years. Rare Dis Orphan Drugs J 2023;2:2.
https://dx.doi.org/10.20517/rdodj.2022.25
Received: 26 Nov 2022 First Decision: 15 Feb 2023 Revised: 24 Feb 2023 Accepted: 28 Feb 2023 Publishd: 3 Mar 2023
Academic Editor: Daniel Scherman Copy Editor: Ying Han Production Editor: Ying Han
Abstract
Kindler Syndrome (KS) is one of the rarest subtypes of epidermolysis bullosa (EB). It is characterised by congenital
blistering, skin fragility, photosensitivity, and poikilodermatous skin changes. It is an autosomal recessive condition
with an established disease-causing mechanism of having biallelic pathogenic variants in the FERMT1 gene.
Multiple variants have been reported worldwide since the discovery in 1954. This case report describes two
patients of Chinese descent with molecularly confirmed KS, one diagnosed in infancy while the other in mid-
adulthood. It highlights the importance and clinical utility of diagnosing KS in children versus adults. The
identification of recurrent c.811C>T variant in both patients also expedited the review of local databases and the

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