An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.,Molecular Genetics & Genomic Medicine

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An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-07-17 , DOI: 10.1002/mgg3.1408
Sajida Rasool _{1,

2} , Jamshaid Mahmood Baig ₃ , Abubakar Moawia _{1,

4} , Ilyas Ahmad ₅ , Maria Iqbal _{1,

4,

6} , Syeda Seema Waseem _{1,

6} , Maria Asif _{1,

4,

6} , Uzma Abdullah ₇ , Ehtisham Ul Haq Makhdoom _{1,

4,

6} , Emrah Kaygusuz _{1,

6,

8,

9} , Muhammad Zakaria ₄ , Shafaq Ramzan ₄ , Saif Ul Haque ₁₀ , Asif Mir ₃ , Iram Anjum ₁₁ , Mehak Fiaz ₂ , Zafar Ali ₄ , Muhammad Tariq ₄ , Neelam Saba ₂ , Wajid Hussain ₁₂ , Birgit Budde ₁ , Saba Irshad ₂ , Angelika Anna Noegel _{6,

13} , Stefan Höning ₆ , Shahid Mahmood Baig ₄ , Peter Nürnberg _{1,

13} , Muhammad Sajid Hussain _{1,

6,

13}

Affiliation

Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Institute of Biochemistry and Biotechnology, Quaid-e-Azam Campus, University of the Punjab, Lahore, Pakistan.
Department of Bioinformatics & Biotechnology, Faculty of Basic and Applied Sciences, International Islamic University, Islamabad, Pakistan.
Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
Institute for Cardiogenetics, University of Luebeck, Luebeck, Germany.
Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.
University Institute of Biochemistry and Biotechnology (UIBB), PMAS-ARID Agriculture University, Rawalpindi, Pakistan.
Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Bilecik Şeyh Edebali University, Molecular Biology and Genetics, Gülümbe Campus, Bilecik, Turkey.
Nuclear Medicine, Oncology and Radiotherapy Institute (NORI), Islamabad, Pakistan.
Department of Biotechnology, Kinnaird College University Lahore, Lahore, Pakistan.
Department of Zoology, University of Okara, Okara, Pakistan.
Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.

Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectual disability. It underlies isolated reduction of the cerebral cortex that is reminiscent of early hominids which makes it suitable model disease to study the hominin‐specific volumetric expansion of brain. Mutations in 25 genes have been reported to cause this disorder. Although majority of these genes were discovered in the Pakistani population, still a significant proportion of these families remains uninvestigated.

中文翻译：

来自巴基斯坦32个近亲家庭的常染色体隐性原发性小头畸形的ASPM，WDR62，CDK5RAP2，STIL，CENPJ和CEP135致病变异的更新。

原发性小头畸形（MCPH）是一种先天性神经发育障碍，表现为小脑和智力残疾。它是孤立的大脑皮层减少的基础，这让人联想到早期的原始人，这使其成为研究人的特定人脑体积膨胀的合适模型疾病。据报道，有25个基因的突变导致了这种疾病。尽管这些基因中的大多数是在巴基斯坦人口中发现的，但这些家庭中仍有相当大的一部分尚未调查。

更新日期：2020-09-14

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