CASE REPORT: DOCK7 MUTATION AS A RARE CAUSE OF EPILEPTIC ENCEPHALOPATHY WITH CORTICAL BLINDNESS, DYSMORPHIC FINDINGS
Özlem Özsoy, Didem Soydemir, Çağatay Günay, Gamze Sarıkaya Uzan, Mehmet Can Yeşilmen, Ayşe Semra Hız, Uluç Yiş
OBJECTIVE: Early infantile epileptic encephalopathy 23 (EIEE23; OMIM #615859) is a rare autosomal recessive disorder. It is characterized by persistent seizures, multifocal epileptic activity on electroencephalography (EEG), psychomotor developmental delay, dysmorphic facial findings, cortical blindness/vision impairment. DOCK7 (dedicator of cytokinesis 7) is a protein involved in intracellular signaling networks, in axon formation and neuronal polarization. Loss of function has been identified among the genetic etiologies of EIEE23. We aimed to present our case associated with DOCK7 mutation because of its rarity. METHODS: Whole exome sequencing was performed in our case with epileptic encephalopathy, cortical blindness and dysmorphic findings and data were analyzed with variant prioritization algorithms. RESULTS: A seven-year-old male patient presented with pyschomotor delay and refractory seizures. He had dysmorphic findings including low anterior-posterior hairlines, high palate, prominent gingiva, telecanthus, long eyelashes, large ears, periorbital fullness, wide nasal tip, flattened nasal root. Visual evoked potentials (VEP) revealed conduction defects in bilateral visual pathways and optic discs were pale in fundus examination. Hearing test, karyotype analysis, metabolic tests and MR spectroscopy were normal. Cranial Magnetic Resonance Imaging (MRI) revealed gliotic changes (T2 hyperintensities) which were prominent in occipital lobes. DOCK7 c.5669dup p.Cys1891ValfsTer2 C1891Vfs*2 homozygous pathogenic variant was detected in WES. CONCLUSION: There are few cases in which DOCK7 mutation has been described in the literatüre. We think that DOCK7 mutation should be considered clinically in cases with dysmorphic facial findings, cortical blindness, pervasive developmental brain abnormalities and refractory seizures.
Keywords: DOCK7, epilepsy, encephalopathy, blindness, dysmorphology
Özlem Özsoy
Dokuz Eylül University Faculty of Medicine
Turkey
Didem Soydemir
Dokuz Eylül University Faculty of Medicine
Turkey
Çağatay Günay
Dokuz Eylül University Faculty of Medicine
Turkey
Gamze Sarıkaya Uzan
Dokuz Eylül University Faculty of Medicine
Turkey
Mehmet Can Yeşilmen
Dokuz Eylül University Faculty of Medicine
Turkey
Ayşe Semra Hız
Dokuz Eylül University Faculty of Medicine
Turkey
Uluç Yiş
Dokuz Eylül University Faculty of Medicine
Turkey
OBJECTIVE: Early infantile epileptic encephalopathy 23 (EIEE23; OMIM #615859) is a rare autosomal recessive disorder. It is characterized by persistent seizures, multifocal epileptic activity on electroencephalography (EEG), psychomotor developmental delay, dysmorphic facial findings, cortical blindness/vision impairment. DOCK7 (dedicator of cytokinesis 7) is a protein involved in intracellular signaling networks, in axon formation and neuronal polarization. Loss of function has been identified among the genetic etiologies of EIEE23. We aimed to present our case associated with DOCK7 mutation because of its rarity. METHODS: Whole exome sequencing was performed in our case with epileptic encephalopathy, cortical blindness and dysmorphic findings and data were analyzed with variant prioritization algorithms. RESULTS: A seven-year-old male patient presented with pyschomotor delay and refractory seizures. He had dysmorphic findings including low anterior-posterior hairlines, high palate, prominent gingiva, telecanthus, long eyelashes, large ears, periorbital fullness, wide nasal tip, flattened nasal root. Visual evoked potentials (VEP) revealed conduction defects in bilateral visual pathways and optic discs were pale in fundus examination. Hearing test, karyotype analysis, metabolic tests and MR spectroscopy were normal. Cranial Magnetic Resonance Imaging (MRI) revealed gliotic changes (T2 hyperintensities) which were prominent in occipital lobes. DOCK7 c.5669dup p.Cys1891ValfsTer2 C1891Vfs*2 homozygous pathogenic variant was detected in WES. CONCLUSION: There are few cases in which DOCK7 mutation has been described in the literatüre. We think that DOCK7 mutation should be considered clinically in cases with dysmorphic facial findings, cortical blindness, pervasive developmental brain abnormalities and refractory seizures.
Keywords: DOCK7, epilepsy, encephalopathy, blindness, dysmorphology
Özlem Özsoy
Dokuz Eylül University Faculty of Medicine
Turkey
Didem Soydemir
Dokuz Eylül University Faculty of Medicine
Turkey
Çağatay Günay
Dokuz Eylül University Faculty of Medicine
Turkey
Gamze Sarıkaya Uzan
Dokuz Eylül University Faculty of Medicine
Turkey
Mehmet Can Yeşilmen
Dokuz Eylül University Faculty of Medicine
Turkey
Ayşe Semra Hız
Dokuz Eylül University Faculty of Medicine
Turkey
Uluç Yiş
Dokuz Eylül University Faculty of Medicine
Turkey
Özlem Özsoy
Dokuz Eylül University Faculty of Medicine
Turkey
Dokuz Eylül University Faculty of Medicine
Turkey