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Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.

Human molecular genetics - 15 Sept 2018

Fattahi Zohreh, Sheikh Taimoor I, Musante Luciana, Rasheed Memoona, Taskiran Ibrahim Ihsan, Harripaul Ricardo, Hu Hao, Kazeminasab Somayeh, Alam Muhammad Rizwan, Hosseini Masoumeh, Larti Farzaneh, Ghaderi Zhila, Celik Arzu, Ayub Muhammad, Ansar Muhammad, Haddadi Mohammad, Wienker Thomas F, Ropers Hans Hilger, Kahrizi Kimia, Vincent John B, Najmabadi Hossein

Abstract excerpt

Exploring genes and pathways underlying intellectual disability (ID) provides insight into brain development and function, clarifying the complex puzzle of how cognition develops. As part of ongoing systematic studies to identify candidate ID genes, linkage analysis and next-generation sequencing revealed Zinc Finger and BTB Domain Containing 11 (ZBTB11) as a novel candidate ID gene. ZBTB11 encodes a...

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Identifiers

PMID: 29893856
DOI: 10.1093/hmg/ddy220

Genes

ZBTB11

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Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.PMID 29893856Read ↗

A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.Semantic proximity Read ↗

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.Semantic proximity Read ↗

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.Semantic proximity Read ↗

A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability and structural brain abnormalitiesSemantic proximity Read ↗

Intellectual disability-associated factor Zbtb11 cooperates with NRF-2/GABP to control mitochondrial functionSemantic proximity Read ↗

Intellectual disability-associated factor Zbtb11 cooperates with NRF-2/GABP to control mitochondrial function.Semantic proximity Read ↗

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.Semantic proximity Read ↗

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.Semantic proximity Read ↗

Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.Semantic proximity Read ↗

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Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.Semantic proximity Read ↗

Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.Semantic proximity Read ↗

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