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FLNB haploinsufficiency-related short stature: a new syndrome or an expanded spectrum of Larsen syndrome.

作者信息

Wang Qing, Wang Hong-Ying, Wu Shui-Yan, Wang Xue-Qian, Wu Hai-Ying, Xie Rong-Rong, Wang Feng-Yun, Chen Xiu-Li, Chen Lin-Qi, Lv Hai-Tao, Chen Ting

机构信息

Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China.

Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, China.

出版信息

World J Pediatr. 2024 Sep;20(9):976-980. doi: 10.1007/s12519-024-00832-z. Epub 2024 Jul 30.

DOI:10.1007/s12519-024-00832-z
PMID:39080191
Abstract
摘要

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FLNB haploinsufficiency-related short stature: a new syndrome or an expanded spectrum of Larsen syndrome.与FLNB单倍剂量不足相关的身材矮小：一种新综合征还是 Larsen 综合征的扩展谱系？
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2
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[Delayed growth with raised circulating growth hormone and incapacity to produce somatomedin (dwarfism of Laron type)].[生长激素循环水平升高伴生长延迟及不能产生生长调节素（拉伦型侏儒症）]
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本文引用的文献

1
Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants.双臂展长与身高在 2 至 17 岁参考人群及 ACAN 变异杂合子携带者中的关系。
Horm Res Paediatr. 2020;93(3):164-172. doi: 10.1159/000508500. Epub 2020 Jun 23.
2
Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome.SLC12A3 和 CLCNKB 基因在一名患 Gitelman 综合征中国女孩中的双基因遗传。
BMC Pediatr. 2019 Apr 18;19(1):114. doi: 10.1186/s12887-019-1498-3.
3
Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of in Patients with BMND18.
BMND18患者中影响[具体基因名称缺失]一个关键区域的突变的临床、遗传学和生物信息学特征分析
Int J Endocrinol. 2018 Oct 14;2018:8953217. doi: 10.1155/2018/8953217. eCollection 2018.
4
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.二聚化结构域中细丝蛋白B功能丧失突变导致伴有肋骨异常的常染色体隐性脊柱腕跗骨融合综合征。
Hum Mutat. 2017 May;38(5):540-547. doi: 10.1002/humu.23186. Epub 2017 Feb 27.
5
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.拉森综合征患者的表型和基因型：7例患者的临床同质性和等位基因异质性
BMC Med Genet. 2016 Apr 6;17:27. doi: 10.1186/s12881-016-0290-6.
6
Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.小鼠中Flnb基因的破坏模拟了人类疾病脊椎腕跗骨融合综合征。
Hum Mol Genet. 2008 Mar 1;17(5):631-41. doi: 10.1093/hmg/ddm188. Epub 2007 Jul 17.
7
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.一项关于由FLNB基因突变引起的拉森综合征的分子与临床研究。
J Med Genet. 2007 Feb;44(2):89-98. doi: 10.1136/jmg.2006.043687. Epub 2006 Jun 26.
8
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.编码细丝蛋白B的基因突变会破坏脊椎骨节段化、关节形成和骨骼生成。
Nat Genet. 2004 Apr;36(4):405-10. doi: 10.1038/ng1319. Epub 2004 Feb 29.
9
Larsen's syndrome: review of the literature and analysis of thirty-eight cases.拉森综合征：文献综述及38例病例分析
J Pediatr Orthop. 1994 Jan-Feb;14(1):63-73. doi: 10.1097/01241398-199401000-00014.