First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C

Cutis laxa (CL) is a rare connective tissue disorder characterized by wrinkled, abundant and sagging skin, sometimes associated with systemic impairment. Biallelic alterations in latent transforming growth factor beta‐binding protein 4 gene (LTBP4) cause autosomal recessive type 1C cutis laxa (ARCL1...

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Published in:American journal of medical genetics. Part A 2022-11, Vol.188 (11), p.3343-3349
Main Authors: Ravel, Jean‐Marie, Comel, Margot, Wandzel, Marion, Bronner, Myriam, Tatopoulos, Aurélie, Renaud, Mathilde, Lambert, Laëtitia, Bursztejn, Anne‐Claire, Bonnet, Céline
Format: Article
Language:English
Subjects:
autosomal recessive cutis laxa type 1C (ARCL1C)
Calcium
calcium‐binding epidermal growth factor‐like domain
Cartilage Diseases
Case Report
Case Reports
Connective tissue diseases
Cutis Laxa - genetics
DNA, Complementary
Emphysema
Epidermal Growth Factor
Female
Gastrointestinal Diseases
Gene deletion
Humans
Infant
Latent TGF-beta Binding Proteins - genetics
Literature reviews
LTBP4
Respiratory Tract Diseases
RNA
Skin
Transforming Growth Factor beta
Transforming growth factor-b
Urban‐Rifkin‐Davis syndrome (URDS)
Urologic Diseases
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Summary:Cutis laxa (CL) is a rare connective tissue disorder characterized by wrinkled, abundant and sagging skin, sometimes associated with systemic impairment. Biallelic alterations in latent transforming growth factor beta‐binding protein 4 gene (LTBP4) cause autosomal recessive type 1C cutis laxa (ARCL1C, MIM #613177). The present report describes the case of a 17‐months‐old girl with cutis laxa together with a literature review of previous ARCL1C cases. Based on proband main clinical signs (cutis laxa and pulmonary emphysema), clinical exome sequencing (CES) was performed and showed a new nine base‐pairs homozygous in‐frame deletion in LTBP4 gene. RT‐PCR and cDNA Sanger sequencing were performed in order to clarify its impact on RNA. This report demonstrates that a genetic alteration in the EGF‐like 14 domain calcium‐binding motif of LTBP4 gene is likely responsible for cutis laxa in our patient.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62954