A case report of congenital dysplasia caused by the ANK3 gene mutation in the newborn / 中华实用儿科临床杂志

ABSTRACT

The clinical features, examination findings and gene results of the newborn diagnosed with congenital dysplasia by the ANK3 gene heterozygous mutation in the First Hospital of Jilin University were retrospectively analyzed.A female newborn at 10 minutes presented for postnatal asphyxia and 10 minutes after resuscitation.She had a special appearance, with little spontaneous breathing, no swallowing, extremely low muscular tension, and no primal reflexes.Amplitude integrated electroencephalogram(aEEG) suggested the burst suppression (BS) background activity, BS (+ ), lower boundary at 2 μV, upper boundary at 50 μV, no sleep awakening cycle, no convulsive seizure, and mechanical brush seen in the original electroencephalogram burst.Severe abnormal aEEG was detected.Gene results suggested 2 heterozygous mutations in the ANK3 gene [c.4183(exon33) C >G and c. 8239(exon37) C >T], which have not been previously reported.This case report for the first time reported the clinical phenotype of the ANK3 gene mutation in the newborn with congenital dysplasia.