Genotype and phenotype analysis in a case of cutis laxa type 3 / 中华内分泌代谢杂志

ABSTRACT

Objective:To report the clinical and genetic characteristics of autosomal dominant cutis laxa type 3 caused by ALDH18A1 mutation, and therefore to further understand this rare disease.Methods:High-precision full-exon sequencing was performed for the patient from the Department of Endocrinology and Genetic Metabolism, Children′s Hospital of Chongqing Medical University and genotype-phenotype correlation was summarized. Relevant literature was also reviewed.Results:A 9-month-old boy was admitted with complaint of " development retardation for 9 months, cough for 3 days" , accompanied by skin laxity, special features, skeletal malformation, tracheal bronchus, inguinal hernia, gastroesophageal reflux, and abnormal creases on palms. The heterozygous variation of ALDH18A1 c. 274C>G(p.Leu92Val) on chromosome 10 was revealed using high-precision full-exon sequencing. Together with imaging and metabolomics results, the diagnosis of cutis laxa type 3 was determined. The clinical presentations of this disease are variable, encompassing skin, bone, joint, and neuromuscular system.Conclusion:For suspected pediatric case, it is very important to evaluate the clinical manifestations and metabolic index at regular intervals, and to identify the molecular basis of the disease with gene sequencing early on.