Mutant prolactin receptor and familial hyperprolactinemia
Hyperprolactinemia that is not associated with gestation or the puerperium is usually due to tumors in the anterior pituitary gland and occurs occasionally in hereditary multiple endocrine neoplasia syndromes. Here, we report data from three sisters with hyperprolactinemia, two of whom presented wit...
| Main Authors: | , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Massachusetts Medical Society
2013
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| _version_ | 1797082875538964480 |
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| author | Newey, P Gorvin, C Cleland, S Willberg, C Bridge, M Azharuddin, M Drummond, R van der Merwe, P Klenerman, P Bountra, C Thakker, R |
| author_facet | Newey, P Gorvin, C Cleland, S Willberg, C Bridge, M Azharuddin, M Drummond, R van der Merwe, P Klenerman, P Bountra, C Thakker, R |
| author_sort | Newey, P |
| collection | OXFORD |
| description | Hyperprolactinemia that is not associated with gestation or the puerperium is usually due to tumors in the anterior pituitary gland and occurs occasionally in hereditary multiple endocrine neoplasia syndromes. Here, we report data from three sisters with hyperprolactinemia, two of whom presented with oligomenorrhea and one with infertility. These symptoms were not associated with pituitary tumors or multiple endocrine neoplasia but were due to a heterozygous mutation in the prolactin receptor gene, PRLR, resulting in an amino acid change from histidine to arginine at codon 188 (His188Arg). This substitution disrupted the high-affinity ligand-binding interface of the prolactin receptor, resulting in a loss of downstream signaling by Janus kinase 2 (JAK2) and signal transducer and activator of transcription 5 (STAT5). Thus, the familial hyperprolactinemia appears to be due to a germline, loss-of-function mutation in PRLR, resulting in prolactin insensitivity. |
| first_indexed | 2024-03-07T01:34:05Z |
| format | Journal article |
| id | oxford-uuid:948eebb6-1812-4a84-8fad-5ba9bc0f94ce |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T01:34:05Z |
| publishDate | 2013 |
| publisher | Massachusetts Medical Society |
| record_format | dspace |
| spelling | oxford-uuid:948eebb6-1812-4a84-8fad-5ba9bc0f94ce2022-03-26T23:40:19ZMutant prolactin receptor and familial hyperprolactinemiaJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:948eebb6-1812-4a84-8fad-5ba9bc0f94ceEnglishSymplectic Elements at OxfordMassachusetts Medical Society2013Newey, PGorvin, CCleland, SWillberg, CBridge, MAzharuddin, MDrummond, Rvan der Merwe, PKlenerman, PBountra, CThakker, RHyperprolactinemia that is not associated with gestation or the puerperium is usually due to tumors in the anterior pituitary gland and occurs occasionally in hereditary multiple endocrine neoplasia syndromes. Here, we report data from three sisters with hyperprolactinemia, two of whom presented with oligomenorrhea and one with infertility. These symptoms were not associated with pituitary tumors or multiple endocrine neoplasia but were due to a heterozygous mutation in the prolactin receptor gene, PRLR, resulting in an amino acid change from histidine to arginine at codon 188 (His188Arg). This substitution disrupted the high-affinity ligand-binding interface of the prolactin receptor, resulting in a loss of downstream signaling by Janus kinase 2 (JAK2) and signal transducer and activator of transcription 5 (STAT5). Thus, the familial hyperprolactinemia appears to be due to a germline, loss-of-function mutation in PRLR, resulting in prolactin insensitivity. |
| spellingShingle | Newey, P Gorvin, C Cleland, S Willberg, C Bridge, M Azharuddin, M Drummond, R van der Merwe, P Klenerman, P Bountra, C Thakker, R Mutant prolactin receptor and familial hyperprolactinemia |
| title | Mutant prolactin receptor and familial hyperprolactinemia |
| title_full | Mutant prolactin receptor and familial hyperprolactinemia |
| title_fullStr | Mutant prolactin receptor and familial hyperprolactinemia |
| title_full_unstemmed | Mutant prolactin receptor and familial hyperprolactinemia |
| title_short | Mutant prolactin receptor and familial hyperprolactinemia |
| title_sort | mutant prolactin receptor and familial hyperprolactinemia |
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