[P2-42] A Chinese boy with geleophysic dysplasia and two compound heterozygous mutations of ADAMTSL2
[Objective] Geleophysic dysplasia, belonging to the group of acromelic dysplasias, is a rare genetic disorder present with severe short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness, toe walking, skin thickness, progressive cardiac valvular thickening and characteristic facial features, like happy face with full cheeks. This study, the clinical and genetic features of a Chinese boy were investigated. [Methods] The boy was admitted because of severe physical growth and mild psychomotor retardation. Comprehensive medical evaluation including metabolic studies, endocrine function examination, bone X-rays and echocardiography. Targeted next-generation sequencing was used to detect mutations associated with skeletal dysplasia. Sanger sequencing was used to confirm the mutations in the patient and his parents. [Results] Two compound heterozygous mutations were identified from the ADAMTSL2 gene of the patient. c.340G>A (p.E114K) from his father was a reported mutation. c.IVS3-2A>G from his mother was a novel pathogenic heterozygous splicing mutation. Growth hormone deficiency had been observed in the patient. Growth velocity was improved by growth hormone supplement. [Conclusion] A Chinese patient with geleophysic dysplasia type 1 was firstly reported. A novel splicing mutation in ADAMTSL2 was identified. Growth hormone has been tried with good effect in the patient.