Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a group of inherited keratinization disorders that are characterized by abnormal epidermal keratinization. ARCI patients generally represent serious symptoms including collodion baby phenotype accompanied by dehydration, heat loss, electrolytic im...

Full description

Bibliographic Details
Published in:	The Turkish Journal of Pediatrics
Main Authors:	Serap Dökmeci-Emre, Zihni Ekim Taşkıran, Ayşe Yüzbaşıoğlu, Gizem Önal, Ayşe Nurten Akarsu, Ayşen Karaduman, Meral Özgüç
Format:	Article
Language:	English
Published:	Hacettepe University Institute of Child Health 2017-08-01
Subjects:	PNPLA1 autosomal recessive congenital ichthyosis (ARCI) mutation
Online Access:	https://turkjpediatr.org/article/view/1018

Similar Items

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis
by: Liangshan Li, et al.
Published: (2020-02-01)

PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis
by: Fansi Zeng, et al.
Published: (2022-07-01)

Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis
by: Juliette Mazereeuw-Hautier, et al.
Published: (2020-02-01)

Isotretinoin Treatment for Autosomal Recessive Congenital Ichthyosis in a Golden Retriever
by: Ana Petak, et al.
Published: (2022-02-01)

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect
by: Uxia Esperón-Moldes, et al.
Published: (2019-06-01)

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay
by: Linyan Zhu, et al.
Published: (2024-12-01)

Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations
by: Hanife SAAT, et al.
Published: (2022-06-01)

Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
by: Sheila I. Peña-Corona, et al.
Published: (2023-11-01)

Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome
by: Rabah M. Shawky, et al.
Published: (2016-07-01)

Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis
by: Fatima Alabdulrazzaq, et al.
Published: (2023-12-01)

Three Novel Mutations in ALOX12B Gene in Patients with Autosomal Recessive Congenital Ichthyosis from Turkey
by: Özge Zorlu, et al.
Published: (2025-07-01)

Harlequin ichthyosis: A case image from Syria
by: Jacob Al‐Dabbagh, et al.
Published: (2022-10-01)

Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis
by: LIU Juan, et al.
Published: (2023-04-01)

Novel ALOX12B mutation identified in parents following single nucleotide polymorphism microarray testing of banked DNA from a fatal case of congenital ichthyosis
by: Smrithi Salian, et al.
Published: (2016-01-01)

An infant with lamellar ichthyosis presenting with meningitis
by: Telila Mesfin, et al.
Published: (2023-12-01)

Coexistence of Griscelli Syndrome Type 2 and Autosomal Recessive Congenital Ichthyosis in an Indian Girl
by: Yashika Jayesh Doshi, et al.
Published: (2025-04-01)

Success of Immunopathogenetic Therapy for Management of Congenital Ichthyosis, Combined Form, in a Child: Rare Clinical Case
by: Karine O. Avetisyan, et al.
Published: (2024-11-01)

The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study
by: Damiano Abeni, et al.
Published: (2021-06-01)

Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype–phenotype correlations and literature review
by: Jia‐Wei Liu, et al.
Published: (2024-05-01)

Autosomal dominant non-epidermolytic palmoplantar hyperkeratosis in a Nigerian girl
by: Anigilaje EA, et al.
Published: (2024-07-01)

Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient
by: Ryo Fukaura, et al.
Published: (2025-02-01)

Topical Isotretinoin (TMB-001) Treatment for 12 Weeks Did Not Result in Clinically Relevant Laboratory Abnormalities in Participants with Congenital Ichthyosis in the Phase 2b CONTROL Study
by: Kalyani Marathe, et al.
Published: (2023-05-01)

Harlequin Ichthyosis: Navigating the Challenges of a Rare Case
by: Kamleshkumar G Rathod, et al.
Published: (2024-06-01)

Mutation Analysis of the CYP4F22 Gene in a Family with Autosomal Recessive Congenital Ichthyosis
by: ZHANG Yingzi, et al.
Published: (2022-07-01)

A case of self-healing collodion baby
by: Aleksandra Kitowska, et al.
Published: (2021-05-01)

Cutaneous ichthyosis secondary to isoniazid
by: Hatim Kouismi, et al.
Published: (2013-04-01)

Oral Manifestations and Conservative Clinical Management of a 2-year-old Child with Congenital Ichthyosis: A Case Report
by: Jaya Agali Ramachandra, et al.
Published: (2025-09-01)

Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients
by: Tiziana Fioretti, et al.
Published: (2020-11-01)

Recurrent KRT10 Variant in Ichthyosis with Confetti
by: Takuya Takeichi, et al.
Published: (2020-07-01)

Congenital ichthyosis presentation and outcome - A case series
by: Qudsiya A. Ansari, et al.
Published: (2023-11-01)

Ichthyosis (concept, pathohistology, clinical picture, treatment)
by: Tatyana Gennadyevna Takhtarova, et al.
Published: (2021-07-01)

Ichthyin (NIPAL4)-autosomal recessive congenital ichthyosis with atopic diathesis: Case report and literature review
by: Yousef Binamer
Published: (2016-01-01)

Superficial epidermolytic ichthyosis in a neonate
by: Pandharinath Keshav Khade, et al.
Published: (2023-01-01)

Harlequin Ichthyosis: report of three cases
by: Rekha Thaddanee, et al.
Published: (2022-05-01)

Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder
by: Vinay Shanker, et al.
Published: (2012-01-01)

The enigma of a keratitis-ichthyosis-deafness with silence, scaling, and related syndrome
by: Mariya Kharodawala, et al.
Published: (2023-01-01)

Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report
by: Jiao Liu, et al.
Published: (2021-01-01)

Spontaneous subconjunctival abscess in congenital lamellar ichthyosis
by: Shivanand C Bubanale, et al.
Published: (2018-01-01)

Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis
by: Zhou Yang, et al.
Published: (2023-09-01)

Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature
by: Maria Tsivilika, et al.
Published: (2022-06-01)