Case report of Gillespie syndrome / 中华实用儿科临床杂志

ABSTRACT

Clinical data of a child diagnosed as Gillespie syndrome in the Department of Rehabilitation, Children′s Hospital of Nanjing Medical University in November 2019 were retrospectively analyzed.The 6-month-old boy presented psychomotor retardation, muscular hypotonia, photophobia, nystagmus and inability to focus and follow objects.Slit lamp examination of eyes revealed fixed dilation pupils, bilateral partial aniridia and characteristic iris strands.Genome sequencing and bioinformatics analysis showed a heterozygous splicing mutation in intron 26 of ITPR1 gene, c.3256-1G>A, which was a newly identified pathogenic mutation that was not been reported yet.Moreover, pa-rents of this case did not carry this mutation.It is suggested that Gillespie syndrome should be considered in children with bilateral partial aniridia, psychomotor retardation and muscular hypotonia.Genetic sequencing is helpful for early diagnosis.