Phenotype-Genotype Correlations of <i>GH1</i> Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency
Authors' 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.
Study context
- Population
- Patients with isolated GHD (IGHD)/multiple pituitary hormone deficiency (MPHD) due to GH1 gene variants, from four unrelated families4 unrelated families
- Participants
- 5 patients
- Outcome
- Clinical and molecular characteristics of GH1 gene variants
Methodological detailsclinical and molecular genetic study, 25-gene panel for MPHD and short stature; MLPA for gross deletions/duplications where panel normal; family segregation by Sanger sequencing
- Clinical and molecular genetic study
- 25-gene panel for MPHD and short stature; MLPA for gross deletions/duplications where panel normal; family segregation by Sanger sequencing
Main finding
As reported in the abstract
IGHD IA due to homozygous whole GH1 gene deletion
1 patient
IGHD IB due to novel homozygous c.162C>G/p.(Tyr54*) variant
1 patient
Previously reported heterozygous c.291+1G>A/p.(?) variant; clinical and genetic characteristics compatible with IGHD II accompanying MPHD
2 patients from a family
Clinical and laboratory characteristics of IGHD II with MPHD; heterozygous c.468 C>T/p.(R160W) variant with conflicting results about relationship with phenotype
1 patient
Observational data: associations, not effects.
Original publication
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