A case of mosaic deletion of paternally‐inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under‐expression as a cause of growth restriction
A case of mosaic deletion of paternally‐inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under‐expression as a cause of growth restriction
PLAGL1 is one of a group of imprinted genes, whose altered expression causes imprinting disorders impacting growth, development, metabolism, and behavior. PLAGL1 over-expression causes transient neonatal diabetes mellitus (TNDM type 1) and, based on murine models, under-expression would be expected to cause growth restriction. However, only some reported individuals with upd(6)mat have growth restriction, giving rise to uncertainty about the role of PLAGL1 in human growth. Here we report three individuals investigated for growth restriction, two with upd(6)mat and one with a mosaic deletion of the paternally-inherited allele of PLAGL1. These cases add to evidence of its involvement in pre- and early post-natal human growth.
chromomosome 6, genomic imprinting, growth restriction, uniparental disomy, upd(6)mat
383-388
Alhendi, Ahmed S.N.
2b38755a-486e-4944-94a6-dc1ff7105efa
Gazdagh, Gabriella
58d84505-107d-4279-9816-fa285b9082ca
Lim, Derek
e1acfb9c-6481-4902-ba7e-768bdd8cf2c1
McMullan, Dominic
624e88ee-61f2-4f05-b3aa-873991b38ca5
Wright, Michael
8d5b7ba4-8f8b-402b-8991-143d50e47c87
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Davies, Justin H.
9f18fcad-f488-4c72-ac23-c154995443a9
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
February 2024
Alhendi, Ahmed S.N.
2b38755a-486e-4944-94a6-dc1ff7105efa
Gazdagh, Gabriella
58d84505-107d-4279-9816-fa285b9082ca
Lim, Derek
e1acfb9c-6481-4902-ba7e-768bdd8cf2c1
McMullan, Dominic
624e88ee-61f2-4f05-b3aa-873991b38ca5
Wright, Michael
8d5b7ba4-8f8b-402b-8991-143d50e47c87
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Davies, Justin H.
9f18fcad-f488-4c72-ac23-c154995443a9
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Alhendi, Ahmed S.N., Gazdagh, Gabriella, Lim, Derek, McMullan, Dominic, Wright, Michael, Temple, I. Karen, Davies, Justin H. and Mackay, Deborah J.G.
(2024)
A case of mosaic deletion of paternally‐inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under‐expression as a cause of growth restriction.
American Journal of Medical Genetics part A, 194 (2), .
(doi:10.1002/ajmg.a.63448).
Abstract
PLAGL1 is one of a group of imprinted genes, whose altered expression causes imprinting disorders impacting growth, development, metabolism, and behavior. PLAGL1 over-expression causes transient neonatal diabetes mellitus (TNDM type 1) and, based on murine models, under-expression would be expected to cause growth restriction. However, only some reported individuals with upd(6)mat have growth restriction, giving rise to uncertainty about the role of PLAGL1 in human growth. Here we report three individuals investigated for growth restriction, two with upd(6)mat and one with a mosaic deletion of the paternally-inherited allele of PLAGL1. These cases add to evidence of its involvement in pre- and early post-natal human growth.
Text
alhendi23upd6mat
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Accepted/In Press date: 6 October 2023
e-pub ahead of print date: 18 October 2023
Published date: February 2024
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Publisher Copyright:
© 2023 Wiley Periodicals LLC.
Keywords:
chromomosome 6, genomic imprinting, growth restriction, uniparental disomy, upd(6)mat
Identifiers
Local EPrints ID: 483269
URI: http://eprints.soton.ac.uk/id/eprint/483269
ISSN: 1552-4825
PURE UUID: 59d3146b-47cf-47f3-92de-61d515077c8c
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Date deposited: 27 Oct 2023 16:31
Last modified: 18 Mar 2024 02:50
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Contributors
Author:
Ahmed S.N. Alhendi
Author:
Gabriella Gazdagh
Author:
Derek Lim
Author:
Dominic McMullan
Author:
Michael Wright
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