A review on the genetics of autosomal recessive primary microcephaly

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Sharifinya Atefeh; OLADNABI MORTEZA

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Journal: JOURNAL OF GORGAN UNIVERSITY OF MEDICAL SCIENCES Year:2020 | Volume:21 | Issue:4 (72) Page(s): 1-13

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Information Journal Paper

Title

A review on the genetics of autosomal recessive primary microcephaly

Author(s)

Sharifinya Atefeh | OLADNABI MORTEZA | Issue Writer Certificate

Keywords

MicrocephalyQ2

Intellectual disabilityQ1

GeneQ2

Abstract

Autosomal recessive primary Microcephaly; MCPH is a rare neurologically condition observed in new born at the birth. Most patients suffer from moderate to severe Intellectual disability. In this review article, we introduce MCPH disorder; include all of the chromosomal locations, kind of MCPH Genes and numbers of mutations, functional efficacy, how to identify the Genes separately and diagnostic algorithm of articles and data base such as OMIM, HGMD. 23 locations Genes (MCPH1-23) have been recognized causes primary Microcephaly in different population, so far. Function of them is to correct orientation of mitosis spindles, duplication of DNA, organization and function of centrosome, transfer of vesicles, transcription regulation, response to DNA lesion, etc. According to investigations, MCPH in Iran and Pakistan population is common because of more consanguinity marriage. MCPH1 and MCPH5 Genes are more common in Iran. Recent advances in molecular biological techniques and animal models have helped to identify the Genetic cause of Microcephaly and open up the horizons for researchers in the field, and also elucidating of the underlying molecular mechanisms will improve our understanding of the structure and function of the brain.

Cites

Genetic Counseling for Families with Sporadic Intellectual Disability in North of Iran: A Retrospective Study

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APA: Copy

Sharifinya, Atefeh, & OLADNABI, MORTEZA. (2020). A review on the genetics of autosomal recessive primary microcephaly. JOURNAL OF GORGAN UNIVERSITY OF MEDICAL SCIENCES, 21(4 (72)), 1-13. SID. https://sid.ir/paper/367770/en

Vancouver: Copy

Sharifinya Atefeh, OLADNABI MORTEZA. A review on the genetics of autosomal recessive primary microcephaly. JOURNAL OF GORGAN UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2020;21(4 (72)):1-13. Available from: https://sid.ir/paper/367770/en

IEEE: Copy

Atefeh Sharifinya, and MORTEZA OLADNABI, “A review on the genetics of autosomal recessive primary microcephaly,” JOURNAL OF GORGAN UNIVERSITY OF MEDICAL SCIENCES, vol. 21, no. 4 (72), pp. 1–13, 2020, [Online]. Available: https://sid.ir/paper/367770/en

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