Homozygous Deletion Mutation of the <i>FERMT1</i> Gene in a Chinese Patient with Kindler Syndrome

Oh, Seung Joon; Kim, Song-Ee; Lee, Sangeun; Kim, Soo Chan

doi:10.5021/ad.2016.28.4.503

Cited by 3 publications

(3 citation statements)

References 5 publications

(13 reference statements)

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“…KEB was diagnosed in five patients (four families; 1.1%; Figure 1a, Table S7). As previously reported, [28][29][30] homozygous mutations in FERMT1 were found in all patients, reflecting either consanguinity in the families or the pathogenic characteristics of the KEB population.…”

Section: Kindler Ebsupporting

confidence: 75%

Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China

Chen

Wei

De-zhong

et al. 2022

Acad Dermatol Venereol

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Background Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic blistering disorders. Objectives The objective was to analyse the genotype–phenotype correlation in EB among Chinese individuals. Methods Next‐generation sequencing and Sanger sequencing were performed to genetically confirm clinically diagnosed EB. Reverse transcription‐PCR and splice‐site analysis were used to evaluate the consequences of splicing mutations. Results A total of 441 cases (413 families) across 11 genes were included. EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), Kindler EB, simplex and junctional compound EB accounted for 23.4%, 12.7%, 61.5%, 1.1% and 0.2%, respectively. In 16 probands with presumptive recessive EB, failed to find the second allele, COL7A1 (10), COL17A1 (4), LAMB3 (1) and ITGB4 (1). De novo mutations are common in dominant EB (63.8% in EBS, 27.5% in DEB) but extremely rare in recessive DEB (RDEB; 0.74%). Mosaicism is more common than presumed, with 5.4% of dominant EBS. In JEB, only 45.0% of patients with biallelic premature termination codon (PTC) mutations in laminin 332 genes died within 24 months, with a longer average survival age of 11.1 months. In JEB, unusual phenotypes are frequently observed, notably urinary tract involvement, duodenal atresia and EB nevi. In RDEB, 48.8% of cases with biallelic PTC mutations in COL7A1 exhibited a relatively mild phenotype; they are likely to develop a severe phenotype at 0–4 years old, and the PTC mutations position closer to the N‐terminal, leading to earlier onset. Glycine substitution mutations in DEB have complex genotypic and phenotypic heterogeneity. The rare subtype, dominant and recessive compound DEB, consists of 1.8% of the total DEB. Conclusions This study reveals the general rules governing genotype–phenotype correlations, rare phenotypes and complex genotypes. Collectively, mutation analysis in different forms of EB provides the basis for improved subclassification with accurate genetic counselling and for prenatal diagnosis.

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Section: Kindler Ebsupporting

confidence: 75%

Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China

Chen

Wei

De-zhong

et al. 2022

Acad Dermatol Venereol

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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: 98%

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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“…Two other splice variants (c.1139+1G>A and c.1861-1G>A) have been reported in homozygous state in two Chinese patients [21,22] . Homozygous frameshift mutations, including c.220delC in exon 3, c.994_995delCA in exon 8, and c.1885_1901del in exon 15, were reported in three Chinese patients, all of which were predicted to cause a premature stop codon [23][24][25] . 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] .…”

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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Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome

Cited by 3 publications

References 5 publications

Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China

Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China

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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