ABSTRACT
Objective:
To investigate the clinical
phenotype and
genotype of a
male case of
subcortical band heterotopia caused by mosaic
mutation of DCX
gene.
Methods:
The clinical data and
magnetic resonance imaging (MRI) features of a
male case of
subcortical band heterotopia diagnosed in the Department of
Neurology,
Children′s
Hospital Affiliated to Zhengzhou
University in August 2020 were analyzed retrospectively. At the same
time, the whole
exon sequencing of the
families was performed by
next generation sequencing method, the suspicious
mutation was verified by
polymerase chain reaction Sanger sequencing, and their genetic
mutation characteristics were analyzed.
Results:
The proband, one
male,
aged 5 years and 1 month, was hospitalized in August 2020 with the complaint of intermittent convulsions for 4 years and six months. Clinical features included that
limb muscle tension was slightly high, intellectual and motor development was backward, and
head circumference was 48 cm. MRI of his
head showed diffuse thick
subcortical band heterotopia. The
detection of whole
exon sequencing in his
family showed that there was hemizygous mosaic
mutation in DCX
gene (mosaic ratio 44%), c.148A>G (p.k50E). The mosaic ratios of
oral mucosa and
urinalysis were 38.2% and 44.8% respectively. His
parents were wild-type, The
mutation found in this
patient has not been reported at home and abroad.
Conclusions:
The mosaic variation of DCX
gene can cause
subcortical band heterotopia in
males. The variation of DCX
gene c.148A>G (p.k50E) may be the possible cause of the proband, which expands the variation spectrum of
subcortical band heterotopia.