Novel AIP mutation in exon 6 causing acromegaly in a German family

M Detomas; B Altieri; J Flitsch; W Saeger; M Korbonits; T Deutschbein

doi:10.1007/s40618-023-02031-5

Novel AIP mutation in exon 6 causing acromegaly in a German family

Standard

Novel AIP mutation in exon 6 causing acromegaly in a German family. / Detomas, M; Altieri, B; Flitsch, J; Saeger, W; Korbonits, M; Deutschbein, T.

in: J ENDOCRINOL INVEST, Jahrgang 46, Nr. 8, 08.2023, S. 1705-1709.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › Kurzpublikation › Forschung › Begutachtung

Harvard

Detomas, M, Altieri, B, Flitsch, J, Saeger, W, Korbonits, M & Deutschbein, T 2023, 'Novel AIP mutation in exon 6 causing acromegaly in a German family', J ENDOCRINOL INVEST, Jg. 46, Nr. 8, S. 1705-1709. https://doi.org/10.1007/s40618-023-02031-5

APA

Detomas, M., Altieri, B., Flitsch, J., Saeger, W., Korbonits, M., & Deutschbein, T. (2023). Novel AIP mutation in exon 6 causing acromegaly in a German family. J ENDOCRINOL INVEST, 46(8), 1705-1709. https://doi.org/10.1007/s40618-023-02031-5

Vancouver

Detomas M, Altieri B, Flitsch J, Saeger W, Korbonits M, Deutschbein T. Novel AIP mutation in exon 6 causing acromegaly in a German family. J ENDOCRINOL INVEST. 2023 Aug;46(8):1705-1709. https://doi.org/10.1007/s40618-023-02031-5

Bibtex

@article{e18519be70f6461085a62145918d04b3,

title = "Novel AIP mutation in exon 6 causing acromegaly in a German family",

abstract = "The most frequent genetic alteration of familial isolated growth hormone producing pituitary neuroendocrine tumors is a germline mutation of the aryl hydrocarbon receptor-interacting protein (AIP) gene. Various AIP mutations are already known; however, an AIP mutation in exon 6 (c.811_812del; p.Arg271Glyfs*16) has not been reported yet. Here, we report a German family with two identical twins who were both affected by acromegaly and carried the above-mentioned novel AIP mutation. The father was found to be an unaffected carrier, while the paternal aunt most likely suffered from acromegaly as well and died from metastatic colorectal cancer. Apart from reporting a novel AIP mutation, this study does not only highlight the different clinical and histological features of the AIP mutated growth hormone producing pituitary neuroendocrine tumors but also confirms the poor responsiveness of dopamine agonists in AIP mutated acromegaly. Furthermore, it highlights the increased mortality risk of comorbidities typically associated with acromegaly.",

keywords = "Humans, Acromegaly/genetics, Adenoma/pathology, Exons/genetics, Growth Hormone, Growth Hormone-Secreting Pituitary Adenoma/genetics, Mutation, Neuroendocrine Tumors/genetics, Pituitary Neoplasms/pathology",

author = "M Detomas and B Altieri and J Flitsch and W Saeger and M Korbonits and T Deutschbein",

note = "{\textcopyright} 2023. The Author(s).",

year = "2023",

month = aug,

doi = "10.1007/s40618-023-02031-5",

language = "English",

volume = "46",

pages = "1705--1709",

journal = "J ENDOCRINOL INVEST",

issn = "0391-4097",

publisher = "Editrice Kurtis s.r.l.",

number = "8",

}

RIS

TY - JOUR

T1 - Novel AIP mutation in exon 6 causing acromegaly in a German family

AU - Detomas, M

AU - Altieri, B

AU - Flitsch, J

AU - Saeger, W

AU - Korbonits, M

AU - Deutschbein, T

PY - 2023/8

Y1 - 2023/8

N2 - The most frequent genetic alteration of familial isolated growth hormone producing pituitary neuroendocrine tumors is a germline mutation of the aryl hydrocarbon receptor-interacting protein (AIP) gene. Various AIP mutations are already known; however, an AIP mutation in exon 6 (c.811_812del; p.Arg271Glyfs*16) has not been reported yet. Here, we report a German family with two identical twins who were both affected by acromegaly and carried the above-mentioned novel AIP mutation. The father was found to be an unaffected carrier, while the paternal aunt most likely suffered from acromegaly as well and died from metastatic colorectal cancer. Apart from reporting a novel AIP mutation, this study does not only highlight the different clinical and histological features of the AIP mutated growth hormone producing pituitary neuroendocrine tumors but also confirms the poor responsiveness of dopamine agonists in AIP mutated acromegaly. Furthermore, it highlights the increased mortality risk of comorbidities typically associated with acromegaly.

AB - The most frequent genetic alteration of familial isolated growth hormone producing pituitary neuroendocrine tumors is a germline mutation of the aryl hydrocarbon receptor-interacting protein (AIP) gene. Various AIP mutations are already known; however, an AIP mutation in exon 6 (c.811_812del; p.Arg271Glyfs*16) has not been reported yet. Here, we report a German family with two identical twins who were both affected by acromegaly and carried the above-mentioned novel AIP mutation. The father was found to be an unaffected carrier, while the paternal aunt most likely suffered from acromegaly as well and died from metastatic colorectal cancer. Apart from reporting a novel AIP mutation, this study does not only highlight the different clinical and histological features of the AIP mutated growth hormone producing pituitary neuroendocrine tumors but also confirms the poor responsiveness of dopamine agonists in AIP mutated acromegaly. Furthermore, it highlights the increased mortality risk of comorbidities typically associated with acromegaly.

KW - Humans

KW - Acromegaly/genetics

KW - Adenoma/pathology

KW - Exons/genetics

KW - Growth Hormone

KW - Growth Hormone-Secreting Pituitary Adenoma/genetics

KW - Mutation

KW - Neuroendocrine Tumors/genetics

KW - Pituitary Neoplasms/pathology

U2 - 10.1007/s40618-023-02031-5

DO - 10.1007/s40618-023-02031-5

M3 - Short publication

C2 - 36757586

VL - 46

SP - 1705

EP - 1709

JO - J ENDOCRINOL INVEST

JF - J ENDOCRINOL INVEST

SN - 0391-4097

IS - 8

ER -