A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith-Lemli-Opitz Syndrome.

Abstract excerpt

BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is a common autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene, resulting in a deficiency of the enzyme 7-dehydrocholesterol reductase. Two forms of SLOS are recognized based on the severity of associated symptoms. Type I is characterized by a milder phenotype, whereas type II is more severe and frequently results in fetal loss or early...

Topics

• Humans
• Smith-Lemli-Opitz Syndrome
• Oxidoreductases Acting on CH-CH Group Donors
• Female
• Child, Preschool
• Phenotype
• Male