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Autosomal recessive cutis laxa

a novel mutation in the FBLN5 gene in a family

Tekedereli, Ibrahima; Demiral, Eminea; Gokce, Ismail K.b; Esener, Zeynepa; Camtosun, Emineb; Akinci, Aysehanb

doi: 10.1097/MCD.0000000000000258

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.

Departments of aMedical Biology and Genetics

bPediatrics, Medical Faculty, Inonu University, Malatya, Turkey

Correspondence to Ibrahim Tekedereli, MD, Department of Medical Biology and Genetics, Medical Faculty, Inonu University, Malatya 44280, Turkey Tel: +90 422 341 0660 x3308; fax: +90 422 341 0736; e-mail:

Received August 17, 2018

Accepted December 20, 2018

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