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Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family

Authors :
İbrahim Tekedereli
Ismail Kursad Gokce
Emine Demiral
Zeynep Esener
Ayşehan Akıncı
Emine Çamtosun
Source :
Clinical Dysmorphology. 28:63-65
Publication Year :
2019
Publisher :
Ovid Technologies (Wolters Kluwer Health), 2019.

Abstract

FBLN5-related cutis laxa (CL) is a rare syndrome that can be inherited in an autosomal dominant or recessive manner. Autosomal recessive cutis laxa (ARCL), type IA, has been reported to be more severe. The disease is characterized by microcephaly, sagging cheeks, loose, wrinkled and redundant skin, emphysema, aorta or pulmonary artery abnormalities, inguinal hernia, and anomalies of internal organs. Homozygous mutations in the FBLN5 gene are responsible for the clinical manifestations. We report a family study of a child with ARCL. FBLN5 genes of the patient and parents were sequenced using next-generation sequencing technologies. Analyses showed that the patient was homozygous for the novel c.518A>G, p.R173H mutation in exon 6 of the FBLN5 gene, whereas the parents were heterozygous. The mutation was found to be 'possibly pathogenic' in bioinformatic analysis. We identified a novel FBLN5 mutation in a CL patient; pedigree and parental genetic analyses suggested ARCL. Our results also suggest that the mutation analysis provides useful evidence to support the clinical diagnosis and define the inheritance mode of CL in an apparently sporadic case.

Details

ISSN :
09628827
Volume :
28
Database :
OpenAIRE
Journal :
Clinical Dysmorphology
Accession number :
edsair.doi.dedup.....b4a0c52983b6474a80aea3d7025cad89
Full Text :
https://doi.org/10.1097/mcd.0000000000000258