Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.
- Resource Type
- Article
- Authors
- Öztürk, Ayşe Pınar; Yavas Abali, Zehra; Aslanger, Ayça Dilruba; Bas, Firdevs; Toksoy, Güven; Karaman, Volkan; Bagirova, Gulandam; Poyrazoglu, Sukran; Uyguner, Zehra Oya; Darendeliler, Feyza
- Source
- Hormone Research in Paediatrics. 2024, Vol. 97 Issue 2, p126-133. 8p.
- Subject
- *PITUITARY dwarfism
*HORMONE deficiencies
*GENETIC variation
*PITUITARY hormones
*SHORT stature
*DELETION mutation
- Language
- ISSN
- 1663-2818
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. [ABSTRACT FROM AUTHOR]