Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome

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Dagdeviren Cakir A., Saidov S., Turan H., CEYLANER S., Özer Y., KUTLU H. T., ...Daha Fazla

Molecular Syndromology, cilt.11, sa.2, ss.90-96, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 11 Sayı: 2
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1159/000506722
  • Dergi Adı: Molecular Syndromology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Sayfa Sayıları: ss.90-96
  • Anahtar Kelimeler: Acanthosis nigricans, Donohue syndrome, INSR, Rabson-Mendenhall syndrome, GROWTH-FACTOR-I, DONOHUE SYNDROME, LEPRECHAUNISM, INSR, MUTATION, PATIENT, KIDNEY
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

© 2020 S. Karger AG, Basel.Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS) are rare diseases caused by biallelic variants within the insulin receptor gene (INSR). Here, we report 2 cases: one with DS and the other with RMS. The case with DS presented with intrauterine growth retardation, nipple hypertrophy, clitoromegaly, distended abdomen, hypertrichosis, and dysmorphic features. The second case showed severe acanthosis nigricans, hyperkeratosis, and hypertrichosis. In both cases, abnormal glucose homeostasis due to severe insulin resistance was observed. The diagnosis of DS and RMS was established based on clinical characteristics, abnormal glucose homeostasis, high serum insulin levels, and determination of pathogenic variants in the INSR gene. The first case with DS has 2 novel homozygous variants, NM-000208.3, c.3122delA (p.N1041Mfs∗16) and c.3419C>G (p.A1140G), and the second case with RMS has a previously reported homozygous variant NM-000208.3, c.3529+5G>A (IVS19+5G>A) in the INSR gene.