Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability

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• 作者：Ilse M. van der Werf^a ; Anke Van Dijck^a ; Edwin Reyniers^a ; Cé ; line Helsmoortel^a ; Ajay Anand Kumar^a ; Vera M. Kalscheuer^b ; Arjan PM de Brouwer^c ; Tjitske Kleefstra^c ; Hans van Bokhoven^c ; Geert Mortier^a ; Sandra Janssens^d ; Geert Vandeweyer^a ; R. Frank Kooy^a ; ^{Frank.Kooy@uantwerpen.be}
• 关键词：ADID ; autosomal dominant intellectual disability ; ARID ; autosomal recessive intellectual disability ; CADD ; Combined Annotation Dependent Depletion ; cDNA ; complementary deoxyribonucleic acid ; DNA ; deoxyribonucleic acid ; ExAC ; Exome Aggregation Consortium ; GRCh37/hg19 ; human genome build 19 ; HEK293 ; human embryonic kidney cells 293 ; ICD-10 ; 10th revision of the International Statistical Classification of Diseases and Related Health Problems ; ID ; intellectual disability ; IQ ; intelligence quotient
• 刊名：Gene
• 出版年：2017
• 出版时间：20 March 2017
• 年：2017
• 卷：605
• 期：Complete
• 页码：92-98
• 全文大小：673 K
• 卷排序：605

文摘

Mutations in ZNF711 cause non-syndromic X-linked intellectual disability. Patients present with mild to moderate ID and poor speech Impaired function of ZNF711 causes differential expression of a limited set of genes.