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Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family
- 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.
- Subjects :
- Adult
Male
Microcephaly
DNA Mutational Analysis
Cutis Laxa
Pathology and Forensic Medicine
Exon
Inheritance Mode
medicine
Humans
Family
Gene
Genetics (clinical)
Genetics
Extracellular Matrix Proteins
business.industry
Homozygote
Infant
Exons
General Medicine
medicine.disease
Pedigree
FBLN5
Mutation
Pediatrics, Perinatology and Child Health
Mutation (genetic algorithm)
Mutation testing
Female
Anatomy
business
Cutis laxa
Subjects
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