Article
Homozygous p.Val89Leu plays an important pathogenic role in 5α-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2.
European journal of endocrinology - 1 Sept 2020
Arya Sneha, Tiwari Ankita, Lila Anurag Ranjan, Sarathi Vijaya, Bhandare Vishwambhar Vishnu, Kumbhar Bajarang Vasant, Rai Khushnandan, Kunwar Ambarish, Thakkar Hemangini, Thakkar Kunal, Memon Saba Samad, Patil Virendra, Khadilkar Kranti, Jadhav Swati S, Shah Nalini S, Bandgar Tushar
Abstract excerpt
OBJECTIVE: To evaluate the pathogenic role of a few benign variants and hypomorphic pathogenic variants in SRD5A2. DESIGN AND METHODS: We retrospectively analyzed phenotypes and genotypes in 23 Indian patients with genetically proven steroid 5α-reductase 2 (SRD5A2) deficiency. The interactions of the SRD5A2 enzymes resulting due to the most common benign variant (p.Val89Leu), the most common (hypomorphic)...
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