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Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

American journal of human genetics - 12 Aug 2011

Sirmaci Asli, Spiliopoulos Michail, Brancati Francesco, Powell Eric, Duman Duygu, Abrams Alex, Bademci Guney, Agolini Emanuele, Guo Shengru, Konuk Berrin, Kavaz Asli, Blanton Susan, Digilio Maria Christina, Dallapiccola Bruno, Young Juan, Zuchner Stephan, Tekin Mustafa

Abstract excerpt

KBG syndrome is characterized by intellectual disability associated with macrodontia of the upper central incisors as well as distinct craniofacial findings, short stature, and skeletal anomalies. Although believed to be genetic in origin, the specific underlying defect is unknown. Through whole-exome sequencing, we identified deleterious heterozygous mutations in ANKRD11 encoding ankyrin repeat domain 11, also...

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PMID: 21782149
DOI: 10.1016/j.ajhg.2011.06.007
PMCID: PMC3155157

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Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.PMID 21782149Read ↗

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.Semantic proximity Read ↗

Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.Semantic proximity Read ↗

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Clinical and genetic aspects of KBG syndrome.Semantic proximity Read ↗

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.Semantic proximity Read ↗

Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.Semantic proximity Read ↗

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.Semantic proximity Read ↗

Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.Semantic proximity Read ↗

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.Semantic proximity Read ↗

Missense variants in <i>ANKRD11</i> cause KBG syndrome by impairment of stability or transcriptional activity of the encoded proteinSemantic proximity Read ↗

A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.Semantic proximity Read ↗

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