Abstract:

Objective To investigate the perinatal clinical features and genetic characteristics of a neonate with otopalatodigital syndrome type 1（OPD1）,and to improve the clinical understanding of such rare diseases. Methods The clinical data of a neonate with OPD1 was collected. The genes of the neonate and his parents were determined by trio-whole exome sequencing（Trio-WES）. Variation sites were verified by Sanger sequencing. The biohazard of gene mutation was analyzed by relevant prediction software. The clinical features of the neonate with filamin A（FLNA） gene hot spot mutation were analyzed retrospectively. Results Prenatal ultrasound showed that the fetal had clinical manifestations such as micrognathia,nasal collapse,abnormal spinal alignment and the length of the second toes of both feet. After birth,the case had a special appearance of ocular hypertelorism,collapsed nasal bridge and wide nasal root,small mandible and backward retraction,low ear position and accessory ear. The results of gene test showed that the FLNA gene had heterozygous mutation（c.620C>T/p.Pro207Leu）,his mother carried the same variant,and his father has wild type. Literature reviewing showed that FLNA gene c.620C>T/p.Pro207Leu was the hot spot variant causing to OPD1. The high frequency phenotypes of the mutation was ocular hypertelorism,eyelid cleft,micrognathia,cleft palate,different types of finger（toe） deformity and hearing loss. Conclusions OPD1 is caused by FLNA gene hot spot variant c.620C>T/p.Pro207Leu. The combination of family datum analysis,prenatal ultrasound and family gene analysis is an effective method for the diagnosis and further typing of otopalatodigital spectrum disorder（OPDSD）.

Key words: Filamin A, Otopalatodigital syndrome type 1, Otopalatodigital spectrum disorder