Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations

Canbaz, Bülent; Coskun, Fatma Olcay; Özkök, Serçin; Takır, Mümtaz

doi:10.4274/mmj.galenos.2022.39924

Cited by 1 publication

(1 citation statement)

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“…Despite the genetic heterogeneity of ARCI, causative mutations in TGM1 have been identified most often and reported in 55% of cases [ 60 , 62 ], so TGM1 is the most preferred gene to screen for mutations in ARCI cases [ 20 , 60 , 63 ]. A latest genetic study on 19 Turkish ARCI patients was carried out by next generation sequencing that identified novel variants in ARCI associated genes of which TGM1 was the most commonly mutated [ 64 ]. An other study reported compound heterozygous pathogenic mutations c.1187G > T and c.607C > T in TGM1 in Chinese patients with LI [ 65 ].…”

Section: Introductionmentioning

confidence: 99%

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family

Almazroea

Ijaz

Aziz³

et al. 2023

Medicina

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Background and Objectives: Lamellar ichthyosis is a rare skin disease characterized by large, dark brown plate-like scales on the entire body surface with minimum or no erythema. This phenotype is frequently associated with a mutation in the TGM1 gene, encoding the enzyme transglutaminase 1 which plays a catalytic role in the formation of the cornified cell envelop. The present study aimed to carry out clinical and genetic characterization of the autosomal recessive lamellar ichthyosis family from Balochistan. Materials and Methods: A consanguineous family with lamellar ichthyosis was enrolled from Balochistan, Pakistan. PCR amplification of all the exons and splice site junctions of the TGM1 gene followed by Sanger sequencing was performed on the genomic DNA. The identified variant was checked by In silico prediction tools to evaluate the effect of the variant on protein. Results: Sanger sequencing identified a homozygous nonsense variant c.131G >A (p.Trp44*) in the TGM1 gene that segregated in the autosomal recessive mode of inheritance in the family. The identified variant results in premature termination of transcribed mRNA and is predicted to cause a truncated or absent translation product transglutaminase-1 (TGase-1) accompanied by loss of catalytic activity, causing a severe clinical phenotype of lamellar ichthyosis in the patients. Conclusions: Here, we report a consanguineous lamellar ichthyosis family with a homozygous nonsense variant in the TGM1 gene. The variant is predicted as pathogenic by different In silico prediction tools.

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