Journal of Interdisciplinary Genomics

유전의학융합회 (Interdisciplinary Society of Genetic & Genomic Medicine)
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Pseudohypoparathyroidism: Clinical Review of Diagnosis and Genetic Etiology

  • Kyung Mi Jang (Department of Pediatrics, Yeungnam University School of Medicine, Yeungnam University Hospital)
  • 투고 : 2023.10.10
  • 심사 : 2023.10.30
  • 발행 : 2023.10.31
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초록

Pseudohypoparathyroidism (PHP) is very rare and shows heterogeneity with impaired genetic components. PHP is characterized by parathyroid hormone resistance to target organ, related with a GNAS (guanine nucleotide-binding protein α-subunit) mutation and epimutation. PHP receptor is coupled with the stimulatory G protein which activates cyclic adenosine monophosphate formation. PHP type 1A is caused by inactivating mutations on the maternal allele of the GNAS whereas paternal allele mutations cause pseudopseudohypoparathyroidism. PHP type 1B is caused by abnormal patterns of methylation in differentially methylated region which can be divided into partial or complete. This disease has some difficulties to diagnose according to these different molecular alterations caused by complex genetic and epigenetic defects. According to this different molecular alterations, genetic confirmation must be done to discriminate their etiology.

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참고문헌

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