Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis

August 2022 in “ The Italian Journal of Pediatrics/Italian journal of pediatrics ”

Gregorio Serra, Luigi Memo, Paola Cavicchioli, Mario Cutrone, Mario Giuffrè, Maria Laura La Torre, Ingrid Anne Mandy Schierz, Giovanni Corsello

congenital ichthyosis ABCA12 KRT1 ST14 Harlequin ichthyosis epidermolytic ichthyosis autosomal recessive ichthyosis with hypotrichosis next-generation sequencing CI HI EI ARIH NGS

Studysummary This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.

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research Genetics of Inherited Ichthyoses and Related Diseases

66 citations , January 2020 in “Acta Dermato Venereologica”

This article reviews genetic advances in resolving inherited ichthyoses using next generation sequencing and notes that new sequencing methods may clarify unknown types in the future.

research Management of Congenital Ichthyoses: European Guidelines of Care, Part Two

66 citations , June 2018 in “British Journal of Dermatology”

These guidelines review the management of complications and specific forms of congenital ichthyosis and report no new results; they summarize expert and evidence-based recommendations for clinicians.

A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

9 citations , March 2018 in “European journal of dermatology/EJD. European journal of dermatology”

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

research Inherited Ichthyosis: Syndromic Forms

47 citations , March 2016 in “Journal of dermatology”

This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.

research Care of the Newborn with Ichthyosis

49 citations , January 2013 in “Dermatologic Therapy”

This review discusses the varying neonatal presentations of Mendelian disorders of cornification (ichthyosis) based on phenotypic groups but reports no new clinical results; the authors suggest categorizing these presentations to guide diagnosis and treatment.

research Keratin Gene Mutations in Disorders of Human Skin and Its Appendages

185 citations , December 2010 in “Archives of Biochemistry and Biophysics”

Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.