Unique variants in the FLG gene and FERMT1 gene in a Chinese patient with ichthyosis and Kindler syndrome

Zheng, Bowen; Zhu, Xianzhong; Yu, Lan; Ma, Jiyong; Li, Xiqing

doi:10.1016/j.jdcr.2019.09.023

Cited by 2 publications

(2 citation statements)

References 6 publications

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“…To date, c.1885_1901del (p.Val629fs) is the 5th reported mutation in Chinese patients with KS, with the other four mutations including three deletion mutations: c.994_995delCA (17), a 17252-bp deletion mutation (18) and g.63601_66617del (14), and one missense mutation, c.1343T>A (p.Met448Lys) (19). c.994_995delCA was the only mutation that was recurrent and was also reported in the Iranian population (20).…”

Section: Discussionmentioning

confidence: 96%

A novel frameshift mutation in the <em>FERMT1</em> gene in a Chinese patient with Kindler syndrome

Yang

et al. 2020

Exp Ther Med

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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.

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Section: Discussionmentioning

confidence: 96%

A novel frameshift mutation in the <em>FERMT1</em> gene in a Chinese patient with Kindler syndrome

Yang

et al. 2020

Exp Ther Med

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“…Ohashi et al observed homozygous nonsense variant c.1761T>A in a Japanese patient and Li et al reported two compound heterozygous nonsense mutations (c.193C>T, c.277C>T) in a Chinese patient [23,26] . Large deletion caused by Matrix Attachment Region elements mediated homologous recombination or Alu-mediated homologous recombination has been reported in two Chinese patients born to consanguineous parents, one of which is a 3017-bp deletion mutation spanning exons 7-9 (g.63601_66617del) and the other one is a 17kb homozygous deletion spanning the introns 1-6, both are presumed to cause nonsense-mediated mRNA decay [27,28] . Apart from null variants, a missense homozygous variant c.1343T>A of uncertain significance has been reported in a Chinese patient with a clinical presentation of atrophic erythema and telangiectasia [29] .…”

Section: Discussionmentioning

confidence: 99%

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

2023

Rare Dis Orphan Drugs J

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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 existing mutation spectrum KS in East Asians.

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Unique variants in the FLG gene and FERMT1 gene in a Chinese patient with ichthyosis and Kindler syndrome

Cited by 2 publications

References 6 publications

A novel frameshift mutation in the <em>FERMT1</em> gene in a Chinese patient with Kindler syndrome

A novel frameshift mutation in the <em>FERMT1</em> gene in a Chinese patient with Kindler syndrome

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

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