The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family
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- 作者：Nuha Alrayesa ; b ; 1 ; Hussein Sheikh Ali Mohamoudb ; 1 ; Saleem Ahmeda ; c ; Mona Mohammad Almramhia ; Taghreed Mohammad Shuaibd ; Jun Wanga ; e ; Jumana Yousuf Al-Aamaa ; f ; Kate Everettb ; Jamal Nasirb ; Musharraf Jelania ; g ; mjelani@kau.edu.sa" class="auth_mail" title="E-mail the corresponding author
- 关键词：Autosomal recessive primary microcephaly ; Alkylglycerol monooxygenase ; Whole exome sequencing ; Novel homozygous ; Frameshift deletion mutation ; Saudi Arabia
- 刊名：Journal of the Neurological Sciences
- 出版年：2016
- 出版时间：15 April 2016
- 年：2016
- 卷：363
- 期：Complete
- 页码：240-244
- 全文大小：635 K
文摘
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MCPH is an autosomal recessive hereditary neurological disorder.
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Alterations in lipid metabolism are associated with neurodevelopmental disorders.
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WES analysis was performed in a consanguineous Saudi family.
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Homozygous deletion mutation in AGMO was identified as causative for MCPH.
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This is the first evidence of AGMO variation causing MCPH in Human.