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Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD)

Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD)
Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD)
Mutations in PROP1 are a frequent cause of familial CPHD. We have described four novel mutations in PROP1 in 3 pedigrees, all resulting in PROP1 deficiency by different mechanisms. The phenotypic variation observed in association with PROP1 mutations both within and between families, together with the evolving nature of hormone deficiencies and sometimes changing pituitary morphology indicates a need for continual monitoring of these patients.
96-103
Kelberman, D.
089660c5-0f79-4397-8723-adceaab696b9
Turton, J.P.G.
61b624fc-5230-4648-aa3d-6747fef2dc26
Woods-Townsend, Kathryn
af927fa3-30b6-47d9-8b4d-4d254b3a7aab
Mehta, A.
d1ffa5c9-13f5-4917-ad89-df743b516d14
Al-Khawari, M.
d8bd861c-5f6a-4083-b6b2-1d00630a6d76
Greening, J.
9b646488-5326-4926-9f0b-987d6c33e7d6
Swift, P.G F.
a611f55d-1d88-40f8-96d7-6a82b764519a
Otonkoski, T.
7db6a536-7e89-4b90-bacc-1442a165147c
Rhodes, S.J.
bb49d931-6b88-4c96-9850-ab3fefc2ba79
Dattani, M.T.
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Kelberman, D.
089660c5-0f79-4397-8723-adceaab696b9
Turton, J.P.G.
61b624fc-5230-4648-aa3d-6747fef2dc26
Woods-Townsend, Kathryn
af927fa3-30b6-47d9-8b4d-4d254b3a7aab
Mehta, A.
d1ffa5c9-13f5-4917-ad89-df743b516d14
Al-Khawari, M.
d8bd861c-5f6a-4083-b6b2-1d00630a6d76
Greening, J.
9b646488-5326-4926-9f0b-987d6c33e7d6
Swift, P.G F.
a611f55d-1d88-40f8-96d7-6a82b764519a
Otonkoski, T.
7db6a536-7e89-4b90-bacc-1442a165147c
Rhodes, S.J.
bb49d931-6b88-4c96-9850-ab3fefc2ba79
Dattani, M.T.
13953379-f0e5-4afa-934c-0b3e975939ae

Kelberman, D., Turton, J.P.G., Woods-Townsend, Kathryn, Mehta, A., Al-Khawari, M., Greening, J., Swift, P.G F., Otonkoski, T., Rhodes, S.J. and Dattani, M.T. (2009) Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). Clinical Endocrinology, 70 (1), 96-103. (doi:10.1111/j.1365-2265.2008.03326.x). (PMID:19128366)

Record type: Article

Abstract

Mutations in PROP1 are a frequent cause of familial CPHD. We have described four novel mutations in PROP1 in 3 pedigrees, all resulting in PROP1 deficiency by different mechanisms. The phenotypic variation observed in association with PROP1 mutations both within and between families, together with the evolving nature of hormone deficiencies and sometimes changing pituitary morphology indicates a need for continual monitoring of these patients.

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More information

Published date: January 2009
Organisations: Human Development & Health, Mathematics, Science & Health Education

Identifiers

Local EPrints ID: 340430
URI: http://eprints.soton.ac.uk/id/eprint/340430
PURE UUID: 9bf87863-59b5-4c20-abec-f18929ec5d2a
ORCID for Kathryn Woods-Townsend: ORCID iD orcid.org/0000-0003-3376-6988

Catalogue record

Date deposited: 21 Jun 2012 13:21
Last modified: 09 Nov 2021 03:13

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Contributors

Author: D. Kelberman
Author: J.P.G. Turton
Author: A. Mehta
Author: M. Al-Khawari
Author: J. Greening
Author: P.G F. Swift
Author: T. Otonkoski
Author: S.J. Rhodes
Author: M.T. Dattani

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