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.

中文翻译：

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常染色体隐性性角质松弛：家族中FBLN5基因的新突变。

FBLN5相关的角质层松弛（CL）是一种罕见的综合征，可以常染色体显性或隐性方式遗传。据报道，IA型常染色体隐性角质松弛（ARCL）更为严重。该病的特征是小头畸形，脸颊下垂，皮肤松弛，皱纹和多余，肺气肿，主动脉或肺动脉异常，腹股沟疝和内脏异常。FBLN5基因的纯合突变负责临床表现。我们报告了对ARCL患儿的家庭研究。使用下一代测序技术对患者和父母的FBLN5基因进行了测序。分析表明，该患者是FBLN5基因第6外显子的新的c.518A> G，p.R173H突变纯合子，而父母是杂合子。发现该突变是“可能致病的” 在生物信息学分析中。我们在CL患者中发现了一个新的FBLN5突变；家系和父母的遗传学分析提示ARCL。我们的结果还表明，突变分析提供了有用的证据来支持临床诊断，并在明显零星的病例中定义CL的遗传模式。