Dysmyelination of the cerebral white matter with microdeletion at 6p25

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• 6p25 deletion syndrome is a rare genetic disorder associated with developmental abnormalities.
• The specific clinical manifestations and genetic underpinnings require further elucidation.

Observation:

• A 6-year-old boy presented with global developmental delay, hypotonia, dysmorphic facial features, impaired hearing, visual impairment, short stature, Axenfeld-Rieger anomaly, bicuspid aortic valve, and sensorineural deafness.
• Cranial CT revealed dysmyelination in the subcortical and periventricular white matter.

Findings:

• Fluorescence in situ hybridization (FISH) identified a subtelomeric microdeletion at 6p25, encompassing both FOXC1 and FOXF2 loci.
• This genetic finding correlates with the observed clinical phenotype, including central nervous system dysmyelination.

Implications:

• This case highlights the association between 6p25 microdeletions and central nervous system dysmyelination, a previously infrequently reported feature.
• The findings contribute to a better understanding of the genotype-phenotype correlation in 6p25 deletion syndrome, aiding in diagnosis and genetic counseling.