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Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy.

作者信息

Thakur Seema, Gupta Rachna, Bansal Deepak, Singh Chanchal, Agarwal Divya, Saxena Kamal Kant

机构信息

Department of Genetic and Fetal Medicine, Rainbow Children Hospital, New Delhi, India.

Department of Fetal Medicine, Sunehri Devi Hospital, Sonepat, Indraprastha Apollo Hospital, New Delhi, India.

出版信息

Clin Genet. 2021 Jun;99(6):853-854. doi: 10.1111/cge.13953. Epub 2021 Mar 11.

DOI:10.1111/cge.13953
PMID:33694158
Abstract
摘要

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1
Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy.三例因动力蛋白2重链1（DYNC2H1）基因突变导致短肋胸廓发育不良胎儿的临床见解与分子研究
Clin Genet. 2021 Jun;99(6):853-854. doi: 10.1111/cge.13953. Epub 2021 Mar 11.
2
Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype.一名患有III型严重短肋多指综合征表型患者的动力蛋白2重链1（DYNC2H1）基因存在新型复合杂合突变。
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Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus.胎儿中与DYNC2H1复合杂合突变相关的III型短肋多指综合征或伴或不伴多指的短肋胸廓发育不良3（SRTD3）的产前诊断。
Taiwan J Obstet Gynecol. 2018 Feb;57(1):123-127. doi: 10.1016/j.tjog.2017.12.021.
4
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.NEK1 和 DYNC2H1 均与 Majewski 型短肋多指畸形有关，但与 Beemer-Langer 型无关。
J Med Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717.
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Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.动力蛋白2重链1（DYNC2H1）基因发生突变，该基因编码胞质动力蛋白2重链1运动蛋白，会导致Ⅰ型短肋多指（趾）症，即萨尔迪诺-努南型。
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[Family analysis of a child with Short-rib polydactyly syndrome type III due to variant of DYNC2H1 gene].[因 DYNC2H1 基因变异导致的 III 型短肋多指综合征患儿的家系分析]
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Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III.靶向二代测序鉴定出 III 型短肋多指综合征胎儿中 DYNC2H1 的新型复合杂合突变。
Clin Chim Acta. 2015 Jul 20;447:47-51. doi: 10.1016/j.cca.2015.05.005. Epub 2015 May 14.
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Characterization of a novel deep-intronic variant in identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.通过全外显子组测序在一名患有 III 型短肋胸发育不良致死型的患者中鉴定出一种新型深内含子变异。
Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7). doi: 10.1101/mcs.a006254. Print 2022 Dec.
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DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.动力蛋白2重链1（DYNC2H1）基因突变会导致窒息性胸廓发育不良和短肋多指综合征III型。
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Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.产前靶向基因panel 测序在一名双顶径增大和羊水过多的胎儿中检测到 DYNC2H1 的两个新突变。
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引用本文的文献

1
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of gene in four Chinese families.四个中国家庭中由基因复合杂合变异导致的伴或不伴多指（趾）畸形的短肋胸廓发育不良3型的基因分析及产前诊断
Front Genet. 2023 Mar 17;14:1075187. doi: 10.3389/fgene.2023.1075187. eCollection 2023.