KIF16B KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome

Alsahli Saud; Arold Stefan T.; Alfares Ahmed; Alhaddad Bader; Al Balwi Mohammed; Kamsteeg Erik‐Jan; Al‐Twaijri Waleed; Alfadhel Majid

首页> 外文期刊>American journal of medical genetics, Part A >KIF16B KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome

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KIF16B KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome

机译：KIF16B KIF16B是一种新型常血糖隐性智力残疾综合征的候选基因

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Intellectual disability (ID) and global developmental delay are closely related; the latter is reserved for children under the age of 5 years as it is challenging to reliably assess clinical severity in this population. ID is a common condition, with up to 1%–3% of the population being affected and leading to a huge social and economic impact. ID is attributed to genetic abnormalities most of the time; however, the exact role of genetic involvement in ID is yet to be determined. Whole exome sequencing (WES) has gained popularity in the workup for ID, and multiple studies have been published examining the diagnostic yield in identification of the disease‐causing variant (16%–55%), with the genetic involvement increasing as intelligence quotient decreases. WES has also accelerated novel disease gene discovery in this field. We identified a novel biallelic variant in the KIF16B gene (NM_024704.4:c.3611T??G) in two brothers that may be the cause of their phenotype.

机译：智力残疾（ID）和全球发展延迟密切相关; 后者保留为5岁以下的儿童，因为它挑战可靠地评估该人群的临床严重程度。 ID是一种常见的条件，高达1％-3％的人口受到影响，导致巨大的社会和经济影响。 ID归因于大部分时间的遗传异常; 但是，遗传参与ID的确切作用尚未确定。整体exome测序（WES）在id的余处中获得了普及，并且已经发表了多项研究，研究了鉴定疾病的变异鉴定（16％-55％）的诊断产量，随着智力推出的遗传受累增加而增加。 WES在这一领域还加速了新型疾病基因发现。在两个兄弟中鉴定了KIF16B基因（NM_024704.4：C.3611T'＆g）中的新型双胞胎变体。

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来源
《American journal of medical genetics, Part A》 |2018年第7期|共8页
作者
Alsahli Saud; Arold Stefan T.; Alfares Ahmed; Alhaddad Bader; Al Balwi Mohammed; Kamsteeg Erik‐Jan; Al‐Twaijri Waleed; Alfadhel Majid;
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作者单位

Division of Genetics Department of PediatricsKing Abdulaziz Medical City Ministry of National;

King Abdullah University of Science and Technology (KAUST) Computational Bioscience Research;

Department of Pathology and Laboratory MedicineKing Abdul Aziz Medical City Ministry of National;

Institute of Human Genetics Technische Universit?t MünchenMunich Germany;

King Abdullah International Medical Research Center (KAIMRC)Riyadh Saudi Arabia;

Genome Diagnostics Nijmegen Department of Medical GeneticsRadboud University Medical;

King Abdullah International Medical Research Center (KAIMRC)Riyadh Saudi Arabia;

Division of Genetics Department of PediatricsKing Abdulaziz Medical City Ministry of National;

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正文语种 eng
中图分类医学遗传学;
关键词
congenital anomalies; intellectual disability; KIF16B; seizures; thinning of the corpus callosum;

机译：先天性异常;智力残疾;kif16b;癫痫发作;细胞染色体稀释;

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专利

1. KIF16B KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome [J] . Alsahli Saud, Arold Stefan T., Alfares Ahmed, American journal of medical genetics, Part A . 2018,第7期

机译：KIF16B KIF16B是一种新型常血糖隐性智力残疾综合征的候选基因
2. Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. [J] . Ropers F, Derivery E, Hu H, Human Molecular Genetics . 2011,第13期

机译：非综合征常染色体隐性遗传性智力障碍的新型候选基因的鉴定：WASH复杂成员SWIP。
3. Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP [J] . Fabienne Ropers, Emmanuel Derivery, Hao Hu, Human Molecular Genetics . 2011,第13期

机译：非综合征常染色体隐性遗传性智力障碍的新型候选基因的鉴定：WASH复杂成员SWIP
4. Autosomal recessive hypercholesterolemia: genetics and clinical aspects [C] . Giovanni Zuliani, Renato Fellin European Symposium on Metabolism . 2003

机译：常染色体隐性高胆固醇血症：遗传学和临床方面
5. In search of a novel autosomal recessive cause of non syndromic intellectual disability. [D] . Saleh, Shamsah H. 2015

机译：在寻找一种新的常染色体隐性非综合征性智力障碍的病因。
6. Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability [O] . Megan McSherry, Katherine E. Masih, Nursel H. Elcioglu, -1

机译：鉴定候选基因FAM183A和已知基因中的新型致病变异：常染色体隐性智力障碍的高遗传异质性
7. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability [O] . Regie Lyn P. Santos-Cortez, Valeed Khan, Falak Sher Khan, 2018

机译：具有智力残疾的常染色体隐性神经发育障碍的新型候选基因和变体

KIF16B KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome

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