SNP Shot: Genomic Insights

Perrault syndrome is an uncommon disorder affecting both males and females, presenting with a variety of symptoms. A hallmark of the syndrome is hearing impairment, present in all affected individuals. Females with Perrault syndrome also exhibit ovarian abnormalities. Some individuals, both male and female, may experience neurological issues.

The hearing loss associated with Perrault syndrome is sensorineural, meaning it stems from problems within the inner ear. This hearing loss typically affects both ears and may be present from birth or develop in early childhood. The hearing impairment often progressively worsens over time, unless complete hearing loss is present at birth.

Females with Perrault syndrome display ovarian dysgenesis, characterized by abnormal or absent ovaries, while their external genitalia appear normal. Severely affected girls typically experience primary amenorrhea, failing to begin menstruation by age 16. Many never menstruate. Women with less severe cases experience primary ovarian insufficiency, with menstrual periods starting in adolescence but becoming irregular and ceasing before age 40. Consequently, women with Perrault syndrome may face infertility, making it difficult or impossible to conceive biological children.

Neurological problems in Perrault syndrome can include intellectual disability, ataxia (problems with balance and coordination), and peripheral neuropathy (loss of sensation and weakness in the limbs). However, these neurological issues are not present in all individuals with Perrault syndrome.

Inheritance:

Perrault syndrome follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of a mutated gene, one from each parent, to develop the condition. The parents, who each carry only one copy of the mutated gene, are typically asymptomatic carriers, showing no signs or symptoms of Perrault syndrome themselves.