Feingold 综合征 2 型患者的生长激素缺乏、主动脉扩张和神经认知问题。
Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.
机构信息
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.
出版信息
Am J Med Genet A. 2019 Mar;179(3):410-416. doi: 10.1002/ajmg.a.61037. Epub 2019 Jan 23.
Abstract
We report three patients with Feingold 2 syndrome with the novel features of growth hormone deficiency associated with adenohypophyseal compression, aortic dilation, phalangeal joint contractures, memory, and sleep problems in addition to the typical features of microcephaly, brachymesophalangy, toe syndactyly, short stature, and cardiac anomalies. Microdeletions of chromosome 13q that include the MIR17HG gene were found in all three. One of the patients was treated successfully with growth hormone. In addition to expanding the phenotype of Feingold 2 syndrome, we suggest management of patients with Feingold 2 syndrome include echocardiography at the time of diagnosis in all patients and consideration of evaluation for growth hormone deficiency in patients with short stature.
摘要
我们报告了三例 Feingold 2 综合征患者，具有新的特征，包括生长激素缺乏症与腺垂体受压、主动脉扩张、指关节挛缩、记忆和睡眠问题相关，此外还有典型的特征，如小头畸形、短指畸形、趾并指畸形、身材矮小和心脏异常。所有三例患者均发现 13q 染色体微缺失，包括 MIR17HG 基因。其中一名患者接受生长激素治疗后成功。除了扩展 Feingold 2 综合征的表型外，我们建议对所有患者在诊断时进行心脏超声检查，并考虑对身材矮小的患者进行生长激素缺乏症的评估。
相似文献
1
Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.
Am J Med Genet A. 2019 Mar;179(3):410-416. doi: 10.1002/ajmg.a.61037. Epub 2019 Jan 23.
2
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.
Am J Med Genet A. 2018 Sep;176(9):1956-1963. doi: 10.1002/ajmg.a.40355. Epub 2018 Aug 8.
3
De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2.
Am J Med Genet A. 2013 Apr;161A(4):894-6. doi: 10.1002/ajmg.a.35781. Epub 2013 Mar 12.
4
Feingold syndrome type 2 in a patient from China.
Am J Med Genet A. 2021 Jul;185(7):2262-2266. doi: 10.1002/ajmg.a.62190. Epub 2021 Apr 5.
5
GENETIC COUNSELLING IN FEINGOLD SYNDROME AND A NOVEL MUTATION.
Genet Couns. 2016;27(3):381-384.
6
Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2.
Am J Med Genet A. 2021 Mar;185(3):952-954. doi: 10.1002/ajmg.a.62038. Epub 2020 Dec 27.
7
A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.
Clin Dysmorphol. 2021 Apr 1;30(2):71-75. doi: 10.1097/MCD.0000000000000342.
8
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.
Eur J Med Genet. 2017 Apr;60(4):224-227. doi: 10.1016/j.ejmg.2017.01.010. Epub 2017 Jan 31.
9
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Am J Med Genet A. 2021 Apr;185(4):1204-1210. doi: 10.1002/ajmg.a.62068. Epub 2021 Jan 14.
10
A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome.
Eur J Med Genet. 2012 Nov;55(11):666-9. doi: 10.1016/j.ejmg.2012.07.003. Epub 2012 Jul 25.
引用本文的文献
1
Hypopituitarism: genetic, developmental, and acquired etiologies with a focus on the emerging concept of autoimmune hypophysitis.
Endocr J. 2025 Jun 2;72(6):649-662. doi: 10.1507/endocrj.EJ25-0035. Epub 2025 Mar 27.
2
Multivessel Coronary Artery Dissection in a Patient with Co-Occurrence of Aortic Dissection and Dilated Cardiomyopathy in the Postpartum Period.
Diseases. 2023 Dec 10;11(4):178. doi: 10.3390/diseases11040178.
3
SARS-CoV-2 airway infection results in the development of somatosensory abnormalities in a hamster model.
Sci Signal. 2023 May 9;16(784):eade4984. doi: 10.1126/scisignal.ade4984.
4
First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature.
Mol Syndromol. 2022 Dec;13(5):447-453. doi: 10.1159/000524058. Epub 2022 Apr 27.
5
Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.
Front Endocrinol (Lausanne). 2022 Sep 27;13:1008306. doi: 10.3389/fendo.2022.1008306. eCollection 2022.
6
SARS-CoV-2 Airway Infection Results in Time-dependent Sensory Abnormalities in a Hamster Model.
bioRxiv. 2022 Aug 19:2022.08.19.504551. doi: 10.1101/2022.08.19.504551.
7
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Am J Med Genet A. 2021 Sep;185(9):2719-2738. doi: 10.1002/ajmg.a.62362. Epub 2021 Jun 4.
本文引用的文献
1
Distinct molecular pathways mediate Mycn and Myc-regulated miR-17-92 microRNA action in Feingold syndrome mouse models.
Nat Commun. 2018 Apr 10;9(1):1352. doi: 10.1038/s41467-018-03788-7.
2
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.
Eur J Med Genet. 2017 Apr;60(4):224-227. doi: 10.1016/j.ejmg.2017.01.010. Epub 2017 Jan 31.
3
Expanding the phenotype of feingold syndrome-2.
Am J Med Genet A. 2015 Dec;167A(12):3219-25. doi: 10.1002/ajmg.a.37368. Epub 2015 Sep 11.
4
An allelic series of miR-17 ∼ 92-mutant mice uncovers functional specialization and cooperation among members of a microRNA polycistron.
Nat Genet. 2015 Jul;47(7):766-75. doi: 10.1038/ng.3321. Epub 2015 Jun 1.
5
Neurobehavioral Alterations in a Genetic Murine Model of Feingold Syndrome 2.
Behav Genet. 2015 Sep;45(5):547-59. doi: 10.1007/s10519-015-9724-8. Epub 2015 May 31.
6
Tetralogy of Fallot, microcephaly, short stature and brachymesophalangy is associated with hemizygous loss of noncoding MIR17HG and coding GPC5.
Clin Dysmorphol. 2015 Jul;24(3):113-4. doi: 10.1097/MCD.0000000000000069.
7
A fourth case of Feingold syndrome type 2: psychiatric presentation and management.
BMJ Case Rep. 2014 Nov 12;2014:bcr2014207501. doi: 10.1136/bcr-2014-207501.
8
MYC through miR-17-92 suppresses specific target genes to maintain survival, autonomous proliferation, and a neoplastic state.
Cancer Cell. 2014 Aug 11;26(2):262-72. doi: 10.1016/j.ccr.2014.06.014.
9
Aortic dilatation in patients with bicuspid aortic valve.
N Engl J Med. 2014 May 15;370(20):1920-9. doi: 10.1056/NEJMra1207059.
10
A novel microdeletion involving the 13q31.3-q32.1 region in a patient with normal intelligence.
Eur J Med Genet. 2014 Feb;57(2-3):60-4. doi: 10.1016/j.ejmg.2014.01.006. Epub 2014 Feb 4.
Zotero 插件