Variants in <i>NIPAL4</i> and <i>ALOXE3</i> cause autosomal recessive congenital ichthyosis in Pakistani families

Akbar, Abida; Bint‐e‐Farrakh, Muneeba; Crosby, Andrew H.; Gul, Asma; Harlalka, Gaurav V.

doi:10.1111/cga.12366

Cited by 2 publications

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References 7 publications

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“…TGM1 variants are the most notable cause of ARCI phenotypes worldwide 21 . Genes other than TGM1 causing autosomal recessive congenital ichthyosis in Pakistani population comprise, ABCA12 , CTSC (OMIM:602365), 26 NIPAL4 , ALOXE3 , 27 SULT2B1 , 19 and PNPLA1 4 …”

Section: Discussionmentioning

confidence: 99%

Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin

et al. 2023

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Background Congenital ichthyosis is a diverse group of keratinization disorders associated with generalized scaling of skin of varying severity. The non‐syndromic forms of congenital ichthyosis are further grouped into common ichthyosis (ichthyosis vulgaris and X‐linked ichthyosis), autosomal recessive congenital ichthyosis, and keratopathic ichthyosis. Objective To identify sequence variants involved in different forms of hereditary ichthyoses. Methods We studied eight families with different types of ichthyosis including four families with autosomal recessive congenital ichthyosis and four families with common ichthyosis. Whole exome sequencing and PCR based genotyping was carried out to find out the molecular basis of disease. Results In one family, a novel duplication sequence variant NM_002016.2:c.2767dupT; NP_002007.1:p.Ser923PhefsTer2 was identified in FLG gene; in four families a previously reported nonsense sequence variant NM_000359.3:c.232C>T; NP_002007.1:p.Arg78Ter was identified in TGM1 gene, while, in three families of X‐linked recessive ichthyosis, the whole STS gene (NM_001320752.2; NP_001307681.2) regions were deleted. Study limitation Gene expression studies have not been performed that would have strengthened the findings of computational analysis. Conclusion This study highlights the significance of the c.232C>T variant in the TGM1 gene as a possible founder mutation, complete STS gene deletion as reported previously in Pakistani population, while novel sequence variant in the FLG gene expands the spectrum of variations in this gene. These findings may be used for genetic counseling of the studied families.

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Section: Discussionmentioning

confidence: 99%

Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin

et al. 2023

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Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis

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Shaimardanova

Ponomarev

et al. 2022

IJMS

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Mutations in genes such as transglutaminase-1 (TGM1), which are responsible for the formation and normal functioning of a lipid barrier, lead to the development of autosomal recessive congenital ichthyosis (ARCI). ARCIs are characterized by varying degrees of hyperkeratosis and the presence of scales on the body surface since birth. The quality of life of patients is often significantly affected, and in order to alleviate the manifestations of the disease, symptomatic therapy with moisturizers, keratolytics, retinoids and other cosmetic substances is often used to improve the condition of the patients’ skin. Graft transplantation is commonly used to correct defects of the eye. However, these approaches offer symptomatic treatment that does not restore the lost protein function or provide a long-term skin barrier. Gene and cell therapies are evolving as promising therapy for ARCIs that can correct the functional activity of altered proteins. However, these approaches are still at an early stage of development. This review discusses current studies of gene and cell therapy approaches for various types of ichthyosis and their further prospects for patient treatment.

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Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families

Cited by 2 publications

References 7 publications

Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin

Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis

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