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.

Fiche publication

Date publication

août 2022

Journal

American journal of medical genetics. Part A

Auteurs

Membres identifiés du Cancéropôle Est :
Dr BONNET Céline

Tous les auteurs :
Ravel JM, Comel M, Wandzel M, Bronner M, Tatopoulos A, Renaud M, Lambert L, Bursztejn AC, Bonnet C

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/35972031

Résumé

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.