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Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.

作者信息

Blum Werner F, Klammt Jürgen, Amselem Serge, Pfäffle Heike M, Legendre Marie, Sobrier Marie-Laure, Luton Marie-Pierre, Child Christopher J, Jones Christine, Zimmermann Alan G, Quigley Charmian A, Cutler Gordon B, Deal Cheri L, Lebl Jan, Rosenfeld Ron G, Parks John S, Pfäffle Roland W

机构信息

University Hospital for Children and Adolescents, University of Leipzig, Liebigstrasse 20a, 04103 Leipzig, Germany; Center of Child and Adolescent Medicine, Justus Liebig University, Feulgenstrasse 12, 35392 Giessen, Germany.

University Hospital for Children and Adolescents, University of Leipzig, Liebigstrasse 20a, 04103 Leipzig, Germany.

出版信息

EBioMedicine. 2018 Oct;36:390-400. doi: 10.1016/j.ebiom.2018.09.026. Epub 2018 Sep 25.

DOI:10.1016/j.ebiom.2018.09.026
PMID:30266296
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6197701/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f9b/6197701/b32aac41c642/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f9b/6197701/58e1b679a2e0/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f9b/6197701/73776105a1dd/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f9b/6197701/5da4aa60d289/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f9b/6197701/b32aac41c642/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f9b/6197701/58e1b679a2e0/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f9b/6197701/73776105a1dd/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f9b/6197701/5da4aa60d289/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f9b/6197701/b32aac41c642/gr4.jpg

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本文引用的文献

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Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency.从孤立性生长激素缺乏进展为垂体激素联合缺乏。
Growth Horm IGF Res. 2017 Dec;37:19-25. doi: 10.1016/j.ghir.2017.10.005. Epub 2017 Oct 19.
2
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes.由于 POU1F1（PIT-1）和 PROP1 基因的大片段缺失导致的联合垂体激素缺乏症。
J Hum Genet. 2017 Aug;62(8):755-762. doi: 10.1038/jhg.2017.34. Epub 2017 Mar 30.
3
Genetic causes of isolated and combined pituitary hormone deficiency.
Genome Med. 2024 May 31;16(1):75. doi: 10.1186/s13073-024-01347-y.
4
Commentary on "Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience".关于“使用下一代测序技术对身材矮小儿童进行基因评估：单一三级中心的经验”的评论
Ann Pediatr Endocrinol Metab. 2024 Feb;29(1):1-2. doi: 10.6065/apem.2423018edi01. Epub 2024 Feb 29.
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Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins.比较由 PROP1 基因突变或其他原因引起的儿童垂体激素缺乏症患者的临床特征。
Hormones (Athens). 2024 Mar;23(1):69-79. doi: 10.1007/s42000-023-00510-1. Epub 2023 Dec 26.
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Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
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