Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene

BackgroundAutosomal recessive cutis laxa type 1B (ARCL1B) is an extremely rare disease characterized by severe systemic connective tissue abnormalities, including cutis laxa, aneurysm and fragility of blood vessels, birth fractures and emphysema. The severity of this disease ranges from perinatal de...

Full description

Bibliographic Details
Published in:	Frontiers in Genetics
Main Authors:	Lixue Ouyang, Fan Yang, Hongyu Duan, Chuan Wang
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2024-12-01
Subjects:	autosomal recessive cutis laxa type 1B ARCL1B EFEMP2 heart failure arterial dysplasia
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1453195/full

Similar Items

Corrigendum: Case report and literature review: delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene
by: Lixue Ouyang, et al.
Published: (2025-03-01)

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome
by: Mark T. Handley, et al.
Published: (2014-07-01)

Autosomal recessive cutis laxa type-1 with complex systemic manifestations
by: Shruti Dhanraj Chavan, et al.
Published: (2018-01-01)

Cútis laxa: relato de caso Cutis laxa: case report
by: Gisele Moro do Nascimento, et al.
Published: (2010-10-01)

Cútis laxa granulomatosa: relato de caso Granulomatous slack skin: a case report
by: Maria do Rosário Ferraz Roberti, et al.
Published: (2007-10-01)

Clinical and molecular characterization of an 18‐month‐old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review
by: Marco Ritelli, et al.
Published: (2019-07-01)

Case Report: de novo in-frame deletion in PLCG2 gene: a case report of B-cell lymphopenia, pulmonary bullae, and cutis laxa
by: Xiaoqi Wu, et al.
Published: (2025-03-01)

EFEMP1 contributes to light-dependent ocular growth in zebrafish
by: Jiaheng Xie, et al.
Published: (2024-12-01)

Acquired localized cutis laxa: A case report and the role of plastic surgery
by: Guru Prasad Reddy, et al.
Published: (2019-01-01)

The diagnostic dilemma of cutis laxa: A report of two cases with genotypic dissimilarity
by: Manisha Goyal, et al.
Published: (2015-01-01)

ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA
by: D. Bahena-Bahena, et al.
Published: (2014-01-01)

Acquired Cutis Laxa on the Upper Eyelids and Earlobes: A Case Report and Literature Review
by: Kyoko Katsuren, et al.
Published: (2022-05-01)

A Shared Pathogenesis? Elastic Tissue Degeneration in Two Generations: Co‐Occurrence of Acrokeratoelastoidosis and ARCL1A Cutis Laxa
by: Sumayyah I Alrefaie, et al.
Published: (2025-04-01)

Varied imaging manifestations in EFEMP2 Related Cutis Laxa Associated Arterial Tortuosity
by: Jini Joseph, et al.
Published: (2023-07-01)

"Dermatoglyphic Observations in an Iranian Girl Affected with Congenital Cutis Laxa (Autosomal Recessive)"
by: H Pour-Jafari, et al.
Published: (2003-06-01)

Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report
by: Mohammadbagher Rahmati, et al.
Published: (2015-10-01)

Replication study identified EFEMP1 association with varicose vein predisposition among Indians
by: Rohit Mehra, et al.
Published: (2024-04-01)

EFEMP1 is a potential biomarker of choroid thickness change in myopia
by: Wen-Qing Shi, et al.
Published: (2023-02-01)

Clinical Presentation of a Patient with Congenital Cutis Laxa and Abnormal Thyroid Hormone Levels
by: Yan Ma, et al.
Published: (2014-02-01)

Case Report: Contrasting outcomes and use of desmosine to monitor two patients treated with plasma cell-directed chemotherapy for gammopathy-driven pulmonary elastolysis in acquired cutis laxa
by: Lydia Lee, et al.
Published: (2025-06-01)

Blepharoplasty with canthopexy in a patient with cutis laxa: A case report
by: Jose Isnack Ponte de Alencar, et al.
Published: (2024-01-01)

Acquired Cutis Laxa
by: Ankur Jain
Published: (2020-08-01)

Severe atopic dermatitis with cutis laxa caused by a variant in the ELN gene
by: Tatsuya Katsumi, MD, et al.
Published: (2024-04-01)

Acquired Cutis Laxa Type I: Laxity Treatment Efficacy by Non-Ablative Radiofrequency Monitoring by Cutometer
by: Nuntida Prasertworonun, et al.
Published: (2017-12-01)

Management of Acquired Generalized Cutis Laxa: A Case Report of Nipple-areola Complex Repositioning through Supramammary Incision
by: Gökberk Çavuşoğlu, et al.
Published: (2024-06-01)

The effects of adolescents' sleep duration on life satisfaction: utilizing the autoregressive cross-lagged (ARCL) model
by: Eun Jin Jung
Published: (2025-01-01)

Congenital Cutis Laxa: A Case Report and Literature Review
by: Yang Kun, et al.
Published: (2022-03-01)

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa
by: João Farela Neves, et al.
Published: (2018-12-01)

Marshall's syndrome
by: Neha Meena, et al.
Published: (2016-01-01)

Circulating exosomal protein EFEMP1 and SERPINC1 as diagnostic biomarkers for epithelial ovarian cancer
by: Shiwen Wang, et al.
Published: (2024-12-01)

Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review
by: Carlos Eduardo Steiner, et al.
Published: (2005-01-01)

EFEMP1 in Direct Inguinal Hernia: correlation with TIMP3 and Regulation Toward Elastin Homoeostasis as Well as Fibroblast Mobility
by: Xiaohui Peng, et al.
Published: (2022-01-01)

Blefaroplastia com cantopexia em paciente portadora de cútis laxa: Um relato de caso
by: JOSE ISNACK PONTE DE ALENCAR, et al.
Published: (2024-03-01)

Elastólise pós-inflamatória e cutis laxa (doença de James Marshall): estudo de casos Post-inflammatory elastolysis and cutis laxa (James Marshall disease): case study
by: Claudemir Roberto Aguilar, et al.
Published: (2007-08-01)

A Zebrafish Mutant in the Extracellular Matrix Protein Gene <i>efemp1</i> as a Model for Spinal Osteoarthritis
by: Ratish Raman, et al.
Published: (2023-12-01)

Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms
by: Insa Bultmann-Mellin, et al.
Published: (2015-04-01)

A case of cutis verticis gyrata developing in a patient with primary scarring alopecia: A unique presentation of a rare disorder
by: Michael G. Buontempo, BS, et al.
Published: (2023-08-01)

The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up
by: Masanori Kaji, et al.
Published: (2024-10-01)

METTL1‐m7G‐EGFR/EFEMP1 axis promotes the bladder cancer development
by: Xiaoling Ying, et al.
Published: (2021-12-01)

EFEMP2 upregulates PD-L1 expression via EGFR/ERK1/2/c-Jun signaling to promote the invasion of ovarian cancer cells
by: Xin Shen, et al.
Published: (2023-07-01)