LEPR Deficiency: Prevalence and Importance of a Novel Mutation and Significant Genetic Variants, Usually Underestimated

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BİŞGİN A.

TURKISH JOURNAL OF ENDOCRINOLOGY AND METABOLISM, cilt.22, sa.2, ss.85-90, 2018 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 22 Sayı: 2
  • Basım Tarihi: 2018
  • Doi Numarası: 10.25179/tjem.2018-59842
  • Dergi Adı: TURKISH JOURNAL OF ENDOCRINOLOGY AND METABOLISM
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.85-90
  • Anahtar Kelimeler: LEPR deficiency, morbid obesity, genetic testing, LEPR novel mutation, LEPTIN RECEPTOR GENE, OBESITY, WEIGHT
  • Çukurova Üniversitesi Adresli: Evet

Özet

Objevtice: Diagnostic testing for leptin receptor deficiency, a rare cause of obesity, should be performed in cases where it may affect the clinical management. Therefore, molecular tests are required to grant a conclusive diagnosis. In this study, the clinical utility of molecular testing and the importance of genetic counselling resulting from all the genetic variants, including both, disease-causing mutations and polymorphisms has been outlined.