Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency

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Introduction: Genetic forms of growth hormone deficiency (GHD) may occur as isolated GHD (IGHD) or as a component of multiple pituitary hormone deficiency (MPHD). This study aimed to present the clinical and molecular characteristics of patients with IGHD/MPHD due to the GH1 gene variants. Methods: A gene panel accommodating 25 genes associated with MPHD and short stature was used to search for small sequence variants. Multiplex ligation-dependent probe amplification was performed in patients with normal panel results to investigate gross deletion/duplications. Segregation in the family was performed by Sanger sequencing. Results: The GH1 gene variants were detected in 5 patients from four unrelated families. One patient had IGHD IA due to homozygous whole GH1 gene deletion and one had IGHD IB due to novel homozygous c.162C>G/p.(Tyr54*) variant. Two patients from a family had previously reported heterozygous c.291+1G>A/p.(?) variant in which clinical and genetic characteristics were compatible with IGHD II accompanying MPHD. One patient had clinical and laboratory characteristics of IGHD II with MPHD but the heterozygous c.468 C>T/p.(R160W) variant had conflicting results about the relationship with the phenotype. Conclusion: Expanding our knowledge of the spectrum of GH1 gene variants by apprehending clinical and molecular data of more cases, helps to identify the genotype-phenotype correlation of IGHD/MPHD and the GH1 gene variants. These patients must be regularly followed up for the occurrence of additional pituitary hormone deficiencies.

Location
Deutsche Nationalbibliothek Frankfurt am Main
Extent
Online-Ressource
Language
Englisch

Bibliographic citation
Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency ; volume:97 ; number:2 ; year:2024 ; pages:126-133 ; extent:8
Hormone research in paediatrics ; 97, Heft 2 (2024), 126-133 (gesamt 8)

Creator
Öztürk, Ayşe Pınar
Yavas Abali, Zehra
Aslanger, Ayça Dilruba
Bas, Firdevs
Toksoy, Güven
Karaman, Volkan
Bagirova, Gulandam
Poyrazoglu, Sukran
Uyguner, Zehra Oya
Darendeliler, Feyza

DOI
10.1159/000531113
URN
urn:nbn:de:101:1-2404180022095.154239845568
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
14.08.2025, 10:59 AM CEST

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Associated

  • Öztürk, Ayşe Pınar
  • Yavas Abali, Zehra
  • Aslanger, Ayça Dilruba
  • Bas, Firdevs
  • Toksoy, Güven
  • Karaman, Volkan
  • Bagirova, Gulandam
  • Poyrazoglu, Sukran
  • Uyguner, Zehra Oya
  • Darendeliler, Feyza

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