Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations

Abstract EN

Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes.

Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders.

Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation.

Follow-up periods were 3.5 years and 1 year in the patients.

Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems.

Ophthalmologic examination suggested septooptic dysplasia.

Cranial magnetic resonance imaging (MRI) showed nonspecific gliosis at subcortical and periventricular deep white matter.

Case II was 2.5-year-old girl referred for investigation of global developmental delay and elevated liver enzymes.

Ophthalmologic examination findings were consistent with bilateral nystagmus and retinitis pigmentosa.

Cranial MRI was normal.

Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients.

Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene.

Clinical findings and developmental prognosis vary in PEX1 gene mutation.

Kabuki-like phenotype associated with liver pathology may indicate Zellweger spectrum disorders (ZSD).