Novel mutation in boldCul7/bold gene in a family diagnosed with 3M syndrome

Shaikh Shagufta; Shettigar Suresh K. G.; Kumar Santosh; Kantharia Surita; Kurva Jagannath; Cherian Susan

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Novel mutation in boldCul7/bold gene in a family diagnosed with 3M syndrome

机译：＆粗体中的新突变; cul7＆ / bold＆诊断为3M综合征的家庭中的基因

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This study evaluates a family with two siblings having severe growth retardation and facial dysmorphism, born to consanguineous normal healthy parents. Affymetrix CytoScan 750K microarray showed a 34-Mb pericentric homozygous region on chromosome 6 for both siblings. CUL7 was one of the 141 genes present in this region. Sanger sequencing of CUL7 gene detected a 2-bp novel deletion in the 15th exon (c.2943_2944delCT of the cDNA). This deletion leads to a frameshift and a premature termination signal much upstream of the wild-type termination signal, leading to a nonsense mediated decay of the mRNA. CUL7 protein plays an important role in formation of 3M complex, ubiquitination, microtubule dynamics and cell cycle regulation. Mutations in CUL7 gene is known to cause a rare 3M syndrome. Information about the novel mutation has been accepted in the ClinVar database with rs1064792895.

机译：本研究评估了一个具有两个兄弟姐妹的家庭，其具有严重的生长迟缓和面部困难术，生于血缘正常健康的父母。 Affymetrix Cytoscan 750K微阵列在染色体上显示了34 MB渗透纯合区域，适用于兄弟姐妹。 CUL7是该地区存在的141个基因之一。 CUL7基因的Sanger测序检测到第15次外显子（CDNA C.943_2944DelCT）中的2-BP新型缺失。该删除导致围绕野生型终止信号的上游的架构和过早终端信号，导致介导的mRNA衰减。 CUL7蛋白在形成3M复合物，泛素化，微管动态和细胞周期调节中起重要作用。已知CUL7基因中的突变导致罕见的3M综合征。 Clinvar数据库中已在Clinvar数据库中接受了关于新颖突变的信息，具有RS1064792895。

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来源
《Journal of genetics》 |2019年第1期|共4页
作者
Shaikh Shagufta; Shettigar Suresh K. G.; Kumar Santosh; Kantharia Surita; Kurva Jagannath; Cherian Susan;
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作者单位

Bhabha Atom Res Ctr Hosp Cytogenet &

Mol Genet Sect Pathol Unit Mumbai 400094 Maharashtra India;

Bhabha Atom Res Ctr Hosp Cytogenet &

Mol Genet Sect Pathol Unit Mumbai 400094 Maharashtra India;

Bhabha Atom Res Ctr Hosp Pediat Unit Mumbai 400094 Maharashtra India;

Bhabha Atom Res Ctr Hosp Radiol Unit Div Med Mumbai 400094 Maharashtra India;

Bhabha Atom Res Ctr Hosp Cytogenet &

Mol Genet Sect Pathol Unit Mumbai 400094 Maharashtra India;

Bhabha Atom Res Ctr Hosp Cytogenet &

Mol Genet Sect Pathol Unit Mumbai 400094 Maharashtra India;

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正文语种 eng
中图分类遗传学;
关键词
3M syndrome; ubiquitination; proteasomal degradation; skeletal dysplasia; consanguinity;

机译：3M综合征;泛素化;蛋白酶体降解;骨骼发育不良;血缘关系;

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专利

1. Novel mutation in boldCul7/bold gene in a family diagnosed with 3M syndrome [J] . Shaikh Shagufta, Shettigar Suresh K. G., Kumar Santosh, Journal of genetics . 2019,第1期

机译：＆粗体中的新突变; cul7＆ / bold＆诊断为3M综合征的家庭中的基因
2. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 [J] . Tobias Eisenberger, Rima Slim, Ahmad Mansour, Orphanet journal of rare diseases . 2012,第S1期

机译：有针对性的下一代测序技术可在临床诊断为3型Usher综合征的家庭中识别PHARC的基础基因ABHD12中的纯合性无义突变
3. Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the bold>italic>SLC29A3/italic>/bold> Gene [J] . Se?il Vural, Pelin Ertop, Ceren D. Durmaz, Cytogenetic and genome research . 2017,第4期

机译：HO综合征患者的皮肤显性表型：鉴定＆智能> slc29a3＆ /斜体>基因的新突变
4. A novel mutation of the PTCH1 gene activates the Shh/Gli signaling pathway in a Chinese family with nevoid basal cell carcinoma syndrome [C] . Tingting Zhang, Mingjie Chen, Yan Lü, Academic Committee Conference of Shanghai key lab of stomatology . 2011

机译：PTCH1基因的新型突变激活了中国患有避免基底细胞癌综合征的中国家庭的Shh / Gli信号通路
5. DNA mutation analysis of voltage-gated ion channel genes in two families with sick sinus syndrome and atrial fibrillation/AV nodal reentry tachycardia. [D] . Oh, Frances. 2010

机译：两个病态窦房结综合征和房颤/房室结折返性心动过速患者的电压门控离子通道基因的DNA突变分析。
6. A large-scale mutation search reveals genetic heterogeneity in 3M syndrome [O] . Céline Huber, Anee-Lise Delezoide, Fabien Guimiot, 2009

机译：大规模突变搜索揭示了3M综合征的遗传异质性
7. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 [O] . Eisenberger Tobias, Slim Rima, Mansour Ahmad, 2012

机译：有针对性的下一代测序技术可在临床诊断为Usher综合征3型的家庭中识别PHARC的基因 ABHD12 中的纯合性无义突变

Novel mutation in boldCul7/bold gene in a family diagnosed with 3M syndrome

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