De novo mutations of the growth hormone gene: an important cause of congenital isolated growth hormone deficiency?
| Autor: | Wilma Oostdijk, Michael B. Ranke, Gerhard Binder, J.M. Wit, Guy G. Massa |
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| Rok vydání: | 1998 |
| Předmět: |
medicine.medical_specialty
Offspring RNA Splicing Dwarfism Biology medicine.disease_cause Short stature Growth hormone deficiency Internal medicine medicine Humans Point Mutation RNA Messenger Dwarfism Pituitary Gene Genetics Mutation Splice site mutation Human Growth Hormone Genetic Carrier Screening Infant medicine.disease Pedigree Endocrinology Child Preschool Pediatrics Perinatology and Child Health IGHD Female medicine.symptom |
| Zdroj: | European journal of pediatrics. 157(4) |
| ISSN: | 0340-6199 |
| Popis: | A family with isolated growth hormone deficiency (IGHD) in two children and their mother is reported. Genetic analysis revealed a heterozygous splice site mutation in intron III of the GH-1 gene. This mutation was de novo in the mother and was transmitted in a dominant way to her offspring.De novo mutations in the GH-1 gene may be an important cause of congenital idiopathic IGHD. As these patients have normal fertility, pointing out this mutation is of great value for appropriate genetic counselling in patients with idiopathic IGHD. |
| Databáze: | OpenAIRE |
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