SLC18A3 mutations cause syndromes that vary in clinical presentation. Some SLC18A3 mutations cause severe symptoms already during pregnancy (decreased fetal movements etc.). However, other SLC18A3 mutations cause a milder form of disease. The mildest form of the disease presents with fatigable muscle weakness.
SLC18A3-associated disease appears very rare, only seven families have been described in the medical literature by 2021. However, mutations in many other genes cause similar syndromes.
The mode of inheritance is autosomal recessive. Therefore, two mutations are required to cause the disease. If both parents are carriers of recessively inherited mutations, all of their children have a 25% chance of inheriting the disease. The patient’s children are not at any significant risk for the disease.
SLC18A3