Lack of aberrations of the BMP4, BMP2, and PTX1 genes in a patient with pituitary hypoplasia, os odontoideum, renal dysplasia, and right leg anomalies
| Autor: | Fumie Tateshita, Yasuhide Hayashi, Hitoshi Kato, Masahiro Goto, Nobuko Hashimoto, Junko Takita, Hirofumi Toyoji, Shinzo Egi |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Joint Instability
medicine.medical_specialty Pathology Adolescent DNA Mutational Analysis Limb Deformities Congenital Bone Morphogenetic Protein 2 Bone Morphogenetic Protein 4 Os Odontoideum Biology Kidney Exon Transforming Growth Factor beta Internal medicine Odontoid Process Genetics medicine Humans Paired Box Transcription Factors Transversion Codon Gene Chromosome Aberrations Homeodomain Proteins Polymorphism Genetic General Medicine Exons Phenotype Renal dysplasia Endocrinology Bone morphogenetic protein 4 Pituitary Gland Bone Morphogenetic Proteins Mutation testing Female Tomography X-Ray Computed Transcription Factors |
| Zdroj: | International journal of molecular medicine. 10(3) |
| ISSN: | 1107-3756 |
| Popis: | We report on a 15-year-old girl who presented with pituitary hypoplasia, os odontoideum, renal dysplasia, an asymmetrically short right leg, and postaxial hypodactyly of the right foot. Her endocrinological data showed anterior pituitary hormone deficiency. The fact that she had healthy parents and an elder sister suggests that she had either a de novo mutation or autosomal recessive inheritance. We speculated that bone morphogenetic protein 4 (BMP4), BMP2, or pituitary homeobox 1 (PTX1) might be the responsible genes in this patient based on the similarity of her clinical symptoms and phenotypes to knock-out mice of these genes. We performed mutation analysis of these genes by direct sequencing of genomic DNA. In BMP2 gene, AGA right curved arrow AGT transversion in exon 3, converting arginine to serine was detected. In PTX1 gene, transversion of GCC right curved arrow GGC in exon 2, converting alanine to glycine at codon 184 was found in the patient and controls. We did not find any non-sense mutations although 5 polymorphisms of these genes were found. This constellation of findings may represent a new entity of congenital combined pituitary hormone deficiency. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|