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Large genomic deletions in AIP in pituitary adenoma predisposition

Large genomic deletions in AIP in pituitary adenoma predisposition
Large genomic deletions in AIP in pituitary adenoma predisposition

Context: Germline mutations in AIP have been recently shown to cause pituitary adenoma predisposition (PAP). Subsequently, many intragenic germline mutations have been reported, both in familial and in sporadic settings. Objective: Our objective was to evaluate the possible contribution of large genomic germline AIP deletions, an important mutation type in tumor predisposition syndromes, in PAP. Design: Here, we applied the multiplex ligation-dependent probe amplification assay to examine whether large genomic AIP or MEN1 alterations account for a subset of PAP cases. Patients: The study was performed on familial and sporadic pituitary adenoma cases of European origin, which had previously tested negative for germline AIP and MEN1 mutations by sequencing. Results: Two of 21 pituitary adenoma families (9.5%) were found to harbor an AIP deletion. No copy number changes were detected among 67 sporadic pituitary adenoma patients. No MEN1 deletions were found. Conclusions: The present study shows that large genomic AIP deletions account for a subset of PAP. Therefore, in suspected PAP cases undergoing counseling and AIP genetic testing, multiplex ligation-dependent probe amplification could be considered if direct sequencing does not identify a mutation.

0021-972X
4146-4151
Georgitsi, Marianthi
9f5f1e39-ceff-4fe3-b29b-55eb4ef1c78f
Heliövaara, Elina
c5d4240e-9004-4463-9b71-89b5c52acded
Paschke, Ralf
8112805c-5ed6-4fb6-9e39-79357b80eafb
Kumar, Ajith V.K.
f57d39b6-093b-4026-8a86-f9c96f247150
Tischkowitz, Marc
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Vierimaa, Outi
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Salmela, Pasi
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Sane, Timo
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De Menis, Ernesto
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Cannavò, Salvatore
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Gündogdu, Sadi
1987b18f-8cb6-473a-835a-07e295345cc2
Izatt, Louise
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Lucassen, Anneke
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Aylwin, Simon
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Bano, Gul
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Hodgson, Shirley
a9f6b2c4-f329-40b5-8b07-a74b3fdd1a0c
Koch, Christian A.
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Karhu, Auli
b0ebd43a-6a3b-477c-97e2-39bdca785073
Aaltonen, Lauri A.
1f26d3d5-721c-4652-8a77-95debd33275a
Georgitsi, Marianthi
9f5f1e39-ceff-4fe3-b29b-55eb4ef1c78f
Heliövaara, Elina
c5d4240e-9004-4463-9b71-89b5c52acded
Paschke, Ralf
8112805c-5ed6-4fb6-9e39-79357b80eafb
Kumar, Ajith V.K.
f57d39b6-093b-4026-8a86-f9c96f247150
Tischkowitz, Marc
1e7750c2-91a5-4079-a1f0-f59a1f42405b
Vierimaa, Outi
25a338a1-e922-4c88-91d2-ca2c36e0e6ab
Salmela, Pasi
4867095b-b95a-4db9-8075-aa53ab8b9fd3
Sane, Timo
f3bf5f25-3a33-4a9e-896d-49f3cb788521
De Menis, Ernesto
65fbfd88-9bb8-4f26-ad0a-c8707269c02a
Cannavò, Salvatore
613cc757-04a2-4ac8-a8fd-a54ebe78bf3e
Gündogdu, Sadi
1987b18f-8cb6-473a-835a-07e295345cc2
Izatt, Louise
5d6201a8-8a56-4923-ac9d-75dca6be0a40
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Aylwin, Simon
2059eddd-8435-41b3-b92b-a7cc519e0e1d
Bano, Gul
e42c7e63-3623-4c57-8641-c0724d1b7518
Hodgson, Shirley
a9f6b2c4-f329-40b5-8b07-a74b3fdd1a0c
Koch, Christian A.
49debeac-802c-4b92-b14a-0bba966e1a65
Karhu, Auli
b0ebd43a-6a3b-477c-97e2-39bdca785073
Aaltonen, Lauri A.
1f26d3d5-721c-4652-8a77-95debd33275a

Georgitsi, Marianthi, Heliövaara, Elina, Paschke, Ralf, Kumar, Ajith V.K., Tischkowitz, Marc, Vierimaa, Outi, Salmela, Pasi, Sane, Timo, De Menis, Ernesto, Cannavò, Salvatore, Gündogdu, Sadi, Izatt, Louise, Lucassen, Anneke, Aylwin, Simon, Bano, Gul, Hodgson, Shirley, Koch, Christian A., Karhu, Auli and Aaltonen, Lauri A. (2008) Large genomic deletions in AIP in pituitary adenoma predisposition. Journal of Clinical Endocrinology and Metabolism, 93 (10), 4146-4151. (doi:10.1210/jc.2008-1003).

Record type: Article

Abstract

Context: Germline mutations in AIP have been recently shown to cause pituitary adenoma predisposition (PAP). Subsequently, many intragenic germline mutations have been reported, both in familial and in sporadic settings. Objective: Our objective was to evaluate the possible contribution of large genomic germline AIP deletions, an important mutation type in tumor predisposition syndromes, in PAP. Design: Here, we applied the multiplex ligation-dependent probe amplification assay to examine whether large genomic AIP or MEN1 alterations account for a subset of PAP cases. Patients: The study was performed on familial and sporadic pituitary adenoma cases of European origin, which had previously tested negative for germline AIP and MEN1 mutations by sequencing. Results: Two of 21 pituitary adenoma families (9.5%) were found to harbor an AIP deletion. No copy number changes were detected among 67 sporadic pituitary adenoma patients. No MEN1 deletions were found. Conclusions: The present study shows that large genomic AIP deletions account for a subset of PAP. Therefore, in suspected PAP cases undergoing counseling and AIP genetic testing, multiplex ligation-dependent probe amplification could be considered if direct sequencing does not identify a mutation.

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Published date: 1 October 2008

Identifiers

Local EPrints ID: 469449
URI: http://eprints.soton.ac.uk/id/eprint/469449
ISSN: 0021-972X
PURE UUID: af27506f-9643-42fc-adbd-0f8fdc84aae4
ORCID for Anneke Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

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Date deposited: 14 Sep 2022 16:52
Last modified: 18 Mar 2024 02:54

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Contributors

Author: Marianthi Georgitsi
Author: Elina Heliövaara
Author: Ralf Paschke
Author: Ajith V.K. Kumar
Author: Marc Tischkowitz
Author: Outi Vierimaa
Author: Pasi Salmela
Author: Timo Sane
Author: Ernesto De Menis
Author: Salvatore Cannavò
Author: Sadi Gündogdu
Author: Louise Izatt
Author: Anneke Lucassen ORCID iD
Author: Simon Aylwin
Author: Gul Bano
Author: Shirley Hodgson
Author: Christian A. Koch
Author: Auli Karhu
Author: Lauri A. Aaltonen

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