Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature

Liu, J.-J.; Yuan, Yuting; Zhang, X.-Q.; Li, Z.-M.; Xu, Yun-sheng; Gao, Shuyang; Cai, Jianfeng; Shao, Xiaojuan; Lin, Xiangyang; Li, B.-X.

doi:10.1111/ced.12410

Cited by 8 publications

(5 citation statements)

References 21 publications

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“…The Arg687His variant is located between the ß-Barrel 1 and 2 domains of the transglutaminase-1 enzyme and is expected to cause decreased cytosolic and membranous transglutaminase-1 activity 9 . This variant has been reported as homozygous in a patient with BSI and LI 9 10 . The Arg264Trp variant is located in the core domain of the transglutaminase-1 enzyme and is expected to decrease membranous enzyme function 9 .…”

Section: Discussionmentioning

confidence: 87%

Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma

Gülnerman,

Hanedan,

Akillioglu

et al. 2023

Ann Dermatol

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Autosomal recessive congenital ichthyosis (ARCI) is a group of diseases presenting as collodion baby at birth. ARCI is categorized as Harlequin ichthyosis, lamellar ichthyosis, and non-bullous congenital ichthyosiform erythroderma (NBCIE), bathing suit icthyosis (BSI) and others. We describe the case of a male newborn with NBCIE whose whole exome sequencing revealed two variants of TGM1 gene (NM_000359.3) in a compound heterozygous state: c.790C>T (p.Arg264Trp) in exon 5 and c.2060G>A (p.Arg687His) in exon 13. In the literature, the Arg264Trp variant has been reported as homozygous or compound heterozygous with other variants in patients with BSI. In contrast, the Arg687His variant has been reported only as homozygous in patients with BSI. To the best of our knowledge, this is the first case whose two compound heterozygous variants, exhibiting the NBCIE phenotype, instead of the BSI.

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Section: Discussionmentioning

confidence: 87%

Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma

Gülnerman,

Hanedan,

Akillioglu

et al. 2023

Ann Dermatol

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“…Although the clinical severity of the previously reported ARCI patient carrying the homozygous missense mutation p.Tyr544Cys was not described in the published work, our data suggest that the TGM1 mutations p.Leu207Pro and p.Tyr544Cys result in marked reduction of TGM1 activity and that even homozygous or compound heterozygous missense mutations in TGM1 can cause severe LI. Indeed, to the best of our knowledge, several TGM1 missense mutations, including p.His129Pro, p.Arg142Cys, p.Arg142His, p.Arg143Cys, p.Arg143His, p.Gly218Ser, p.Gly278Arg and p.Trp529Ile, have been shown to lead to almost complete absence of TGM1 activity in vitro or to clinically severe skin manifestations of LI through the substitution of functionally and structurally important residues, aberrant post‐translational processing and/or protein degradation of mutant TGM1 …”

Section: Discussionmentioning

confidence: 99%

“…Indeed, to the best of our knowledge, several TGM1 missense mutations, including p.His129Pro, p.Arg142Cys, p.Arg142His, p.Arg143Cys, p.Arg143His, p.Gly218Ser, p.Gly278Arg and p.Trp529Ile, have been shown to lead to almost complete absence of TGM1 activity in vitro or to clinically severe skin manifestations of LI through the substitution of functionally and structurally important residues, aberrant post-translational processing and/or protein degradation of mutant TGM1. 4,[6][7][8][9] There were other possible reasons for the severe phenotypes presented by our patient, for example, mutations in other ARCI-causing genes. To test this, we reanalyzed the wholeexome sequencing data.…”

Section: Discussionmentioning

confidence: 99%

Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis

Takeda

Nomura

Sugiyama

et al. 2018

The Journal of Dermatology

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TGM1 is the most common gene responsible for lamellar ichthyosis. Previous studies have suggested that patients with lamellar ichthyosis carrying two missense mutations in TGM1 show significantly less severe phenotypes than those with at least one truncating mutation in TGM1. Here, we report a patient with severe lamellar ichthyosis who was compound heterozygous for TGM1 missense mutations, including a novel one. A 22‐year‐old Japanese man presented with large, dark brown, plate‐like scales on the extremities and small adherent scales on the face and trunk. His other clinical findings included ectropion, hair loss, hypohidrosis, hyperthermia in summer, palmoplantar keratoderma and constriction of the fingers. Dermoscopy revealed accentuated sulci cutis with numerous large keratotic plugs in the cristae cutis. Histologically, orthohyperkeratosis and mild acanthosis were noted. Electron microscopy showed reduced cornified envelope thickness and numerous lipid droplets in the stratum corneum. Mutation analysis revealed the patient to be compound heterozygous for missense mutations, c.620T>C (p.Leu207Pro) and c.1631A>G (p.Tyr544Cys), in TGM1. Furthermore, we showed that TGM1 enzymatic activity was largely absent in his epidermis. These findings led us to diagnose him as having lamellar ichthyosis. This study has two important notions. First, even two missense mutations in TGM1 can cause severe lamellar ichthyosis. Second, this is the first report of dermoscopic findings of lamellar ichthyosis, implicating the obstruction of sweat glands by keratotic plugs in the pathogenesis of hypohidrosis in the disease. In conclusion, this study provides further insights into genotype–phenotype correlations and pathogenesis in lamellar ichthyosis.

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“…Over the years much progress has been made in defining the molecular causes of ichthyosis, however there is no internationally accepted classification and terminology. It was agreed that classification remains clinically based and distinguishes between syndromic and non-syndromic ichthyosis forms [ 1 , 4 , 5 ]. Distinguishing between specific subtypes requires careful assessment of clinical features.…”

Section: Introductionmentioning

confidence: 99%

High frequency of primary hereditary ichthyoses in the North-East region of Cairo, Egypt

Elsayed

Seifeldin

Gobrial

2018

pdia

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IntroductionInherited ichthyoses are caused by mutations in various genes important for keratinocyte differentiation and epidermal barrier function. Although ichthyoses are rare disorders, they require costly long-term medical management, and thus there is a need for efficient preventive and therapeutic strategies.AimWe performed a retrospective study to determine the frequency, types, clinical presentation and associated genomic errors of primary hereditary ichthyoses in Egyptian patients and their relatives consulting the Genetics Clinic, Pediatric Hospital, Ain Shams University.Material and methodsThe outpatient log books of patients between January 2000 and December 2014 were reviewed, and diagnosis of new patients was confirmed through examination by a dermatologist. All epidemiologic, demographic, and clinical data were extracted and recorded in especially designed data collection forms.ResultsThe occurrence rate of primary hereditary ichthyoses in our study was 25.7% of genodermatosis patients attending the genetics clinics and 1 per 2359 patients attending the Pediatric Hospital. The commonest type of ichthyosis in our study was Lamellar ichthyosis (38%), followed by congenital ichthyosiform erythroderma (26.8%). Consanguineous marriage was reported among the parents of 79% of patients and positive family history was reported in 72% of patients.ConclusionsTo the best of our knowledge, this preliminary study is the first report on the clinico-epidemiological features of primary hereditary ichthyoses in Egypt. The high rate of prenatal consanguinity among parents of our patients may account for the high frequency of these genodermatoses in Egypt. This highlights the importance of genetic counselling and prenatal diagnosis in Egypt.

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Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature

Abstract: This study expands the current spectrum on TGM1 mutation and increases the knowledge of TGM1 mutation characteristics.

Cited by 8 publications

References 21 publications

Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma

Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma

Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis

High frequency of primary hereditary ichthyoses in the North-East region of Cairo, Egypt

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