MBTPS2 mutation causes BRESEK/BRESHECK syndrome.

Area of Science:

• Genetics
• Developmental Biology
• Medical Genetics

Background:

• BRESEK/BRESHECK syndrome is a rare multiple congenital malformation syndrome affecting males.
• It is characterized by a spectrum of anomalies including brain, ectodermal, skeletal, ear/eye, and renal abnormalities.
• Previous reports have documented only three male patients with this syndrome.

Observation:

• A fourth male patient presented with key features of BRESEK/BRESHECK syndrome, including brain anomaly, intellectual disability, growth retardation, ectodermal dysplasia, vertebral anomaly, Hirschsprung disease, dysmorphic ears, cryptorchidism, and small kidneys.
• The patient's phenotype met the diagnostic criteria for BRESEK/BRESHECK syndrome.

Findings:

• Genetic analysis focused on the MBTPS2 gene, the causal gene for X-linked ichthyosis follicularis with atrichia and photophobia syndrome.
• A specific mutation, p.Arg429His, was identified in the MBTPS2 gene of the affected patient.
• This mutation is known to cause a severe form of ichthyosis follicularis with atrichia and photophobia syndrome.

Implications:

• The identification of the p.Arg429His mutation in MBTPS2 provides a genetic basis for BRESEK/BRESHECK syndrome.
• This finding establishes a link between BRESEK/BRESHECK syndrome and ichthyosis follicularis with atrichia and photophobia syndrome.
• Understanding the genetic cause can aid in diagnosis, genetic counseling, and potential future therapeutic strategies for affected individuals.