Homozygous mutation in the insulin receptor gene and mild form of insulin resistance syndrome; a case report
Yükleniyor...
Dosyalar
Tarih
2021
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Insulin receptor mutations lead to heterogeneous disorders; as severe as Donohue syndrome or as mild as “type A insulin resistance syndrome”. Patients with severe disorders are homozygous or compound heterozygous mutations. Generally patients with type A insulin resistance syndrome have been found to be heterozygous mutations, homozygous type mutations may rarely be responsible for this disease. We reported a novel homozygous mutation p.Leu260Arg on exon 3 on INSR gene in a patient with type A insulin resistance syndrome. In this article, we report an adolescent with type A insulin resistance syndrome due to a novel homozygous mutation on the INSR gene and detailed her medical follow-up. Different mutations in the INSR gene causes different phenotype and different inheritance pattern also, our report is important to making disease mechanisim understand and also helping genetic counseling process.
Açıklama
Anahtar Kelimeler
Hirsutism, Insulin Resistance, Insulin Receptor Gene
Kaynak
J Clin Res Pediatr Endocrinol
WoS Q Değeri
Q3
Scopus Q Değeri
N/A
Cilt
Sayı
Künye
Hacihamdioglu, B., Elif, B. G., & Delil, K. (2020). Homozygous mutation in the insulin receptor gene and mild form of insulin resistance syndrome; a case report.
