A Large PROP1 Gene Deletion in a Turkish Pedigree
Pituitary-specific paired-like homeodomain transcription factor, PROP1, is associated with multiple pituitary hormone deficiency. Alteration of the gene encoding the PROP1 may affect somatotropes, thyrotropes, and lactotropes, as well as gonadotropes and corticotropes. We performed genetic analysis...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2018/2403430 |
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| author | Suheyla Gorar Doga Turkkahraman Kanay Yararbas |
| author_facet | Suheyla Gorar Doga Turkkahraman Kanay Yararbas |
| author_sort | Suheyla Gorar |
| collection | DOAJ |
| description | Pituitary-specific paired-like homeodomain transcription factor, PROP1, is associated with multiple pituitary hormone deficiency. Alteration of the gene encoding the PROP1 may affect somatotropes, thyrotropes, and lactotropes, as well as gonadotropes and corticotropes. We performed genetic analysis of PROP1 gene in a Turkish pedigree with three siblings who presented with short stature. Parents were first degree cousins. Index case, a boy, had somatotrope, gonadotrope, thyrotrope, and corticotrope deficiency. However, two elder sisters had somatotroph, gonadotroph, and thyrotroph deficiency and no corticotroph deficiency. On pituitary magnetic resonance, partial empty sella was detected with normal bright spot in all siblings. In genetic analysis, we found a gross deletion involving PROP1 coding region. In conclusion, we report three Turkish siblings with a gross deletion in PROP1 gene. Interestingly, although little boy with combined pituitary hormone deficiency has adrenocorticotropic hormone (ACTH) deficiency, his elder sisters with the same gross PROP1 deletion have no ACTH deficiency. This finding is in line with the fact that patients with PROP1 mutations may have different phenotype/genotype correlation. |
| format | Article |
| id | doaj-art-071c71ebcc664c51af7d4de85dace58a |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-071c71ebcc664c51af7d4de85dace58a2025-02-03T01:28:45ZengWileyCase Reports in Endocrinology2090-65012090-651X2018-01-01201810.1155/2018/24034302403430A Large PROP1 Gene Deletion in a Turkish PedigreeSuheyla Gorar0Doga Turkkahraman1Kanay Yararbas2Department of Endocrinology and Metabolism, Antalya Education and Research Hospital, 07100 Antalya, TurkeyDepartment of Pediatric Endocrinology, Antalya Education and Research Hospital, 07100 Antalya, TurkeyDepartment of Medical Genetics, Acibadem Mehmet Ali Aydinlar University, 34752 Istanbul, TurkeyPituitary-specific paired-like homeodomain transcription factor, PROP1, is associated with multiple pituitary hormone deficiency. Alteration of the gene encoding the PROP1 may affect somatotropes, thyrotropes, and lactotropes, as well as gonadotropes and corticotropes. We performed genetic analysis of PROP1 gene in a Turkish pedigree with three siblings who presented with short stature. Parents were first degree cousins. Index case, a boy, had somatotrope, gonadotrope, thyrotrope, and corticotrope deficiency. However, two elder sisters had somatotroph, gonadotroph, and thyrotroph deficiency and no corticotroph deficiency. On pituitary magnetic resonance, partial empty sella was detected with normal bright spot in all siblings. In genetic analysis, we found a gross deletion involving PROP1 coding region. In conclusion, we report three Turkish siblings with a gross deletion in PROP1 gene. Interestingly, although little boy with combined pituitary hormone deficiency has adrenocorticotropic hormone (ACTH) deficiency, his elder sisters with the same gross PROP1 deletion have no ACTH deficiency. This finding is in line with the fact that patients with PROP1 mutations may have different phenotype/genotype correlation.http://dx.doi.org/10.1155/2018/2403430 |
| spellingShingle | Suheyla Gorar Doga Turkkahraman Kanay Yararbas A Large PROP1 Gene Deletion in a Turkish Pedigree Case Reports in Endocrinology |
| title | A Large PROP1 Gene Deletion in a Turkish Pedigree |
| title_full | A Large PROP1 Gene Deletion in a Turkish Pedigree |
| title_fullStr | A Large PROP1 Gene Deletion in a Turkish Pedigree |
| title_full_unstemmed | A Large PROP1 Gene Deletion in a Turkish Pedigree |
| title_short | A Large PROP1 Gene Deletion in a Turkish Pedigree |
| title_sort | large prop1 gene deletion in a turkish pedigree |
| url | http://dx.doi.org/10.1155/2018/2403430 |
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