Clinical features and genetic analysis of Currarino syndrome / 中华实用儿科临床杂志

ABSTRACT

Objective To investigate the clinical manifestations and motor neuron and pancreas homeobox 1 (MNX1) gene mutation features of Currarino syndrome.Methods Microdeletion and microduplication of the patients were detected by chromosomal microarray analysis (CMA),and literature review was performed for the clinical syndrome of Currarino syndrome with similar genotype.Results Two patients with Currarino syndrome were recruited in this study.Patient 1,a 7-day girl,came to hospital because of recurrent vomiting.Physical examinations showed coarse facial features,vision problems,serious abdominal flatulence and anal stenosis.Bowel imaging revealed malrotation of the midgut;and the magnetic resonance imaging (MRI) showed tethered spinal cord and malformation of sacrococcygeal vertebra.A 7.89 Mb deletion in chromosome 7 q36.lq36.3 region including MNX1 gene and a 2.20 Mb duplication in 14q32.33 area was found by using CMA.Patient 2,a 1 year and 3 months girl,came to hospital with global development delay.Clinical examination showed facial dysmorphic,growth retardation,intellectural disability,ptosis in right eye and anal stenosis.This patient had developmental retardation in language and movement.MRI showed spina bifida occulta.And a 15.00 Mb deletion in chromosome 7 q35q36.3 region was found including MNX1 gene.Literature review revealed that deletions in MNX1 gene led to Currarino syndrome with coarse facial features,growth retardation and intellectural disability,and this type of Currarino syndrome had not been reported in China.Conclusions Two cases of Currarino syndrome caused by microdeletion in 7q36 are reported for the first time in China,and this study can help clinicians to have a better understanding of this disease.