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

  title={Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome},
  author={M. Khalifa and J. Stein and Lance Grau and V. Nelson and J. Meck and S. Aradhya and J. Duby},
  journal={American Journal of Medical Genetics Part A},
KBG syndrome (OMIM 148050) is a very rare genetic disorder characterized by macrodontia, distinctive craniofacial abnormalities, short stature, intellectual disability, skeletal, and neurologic involvement. Approximately 60 patients have been reported since it was first described in 1975. Recently mutations in ANKRD11 have been documented in patients with KBG syndrome, and it has been proposed that haploinsufficiency of ANKRD11 is the cause of this syndrome. In addition, copy number variation… Expand
18 Citations
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11
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A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome
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Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
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KBG syndrome: 16q24.3 microdeletion in an Indian patient.


Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG‐like syndrome
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Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
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Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
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Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms
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ANKRD11 gene deletion in a 17-year-old male.
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Twins with KBG Syndrome and Autism
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KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria
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The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype
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Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria.
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