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

@article{Khalifa2013PartialDO,
  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},
  year={2013},
  volume={161}
}
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
View on Wiley
ncbi.nlm.nih.gov
18 Citations
Highly Influential Citations
5
Background Citations
8

18 Citations

Citation Type

Citation Type

A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion.
  • 17
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11
  • 29
  • Highly Influenced
A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome
  • 9
  • PDF
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases
  • 15
  • PDF
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome
  • 52
  • Highly Influenced
16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
  • 9
  • Highly Influenced
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
  • 43
  • PDF
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange‐overlapping phenotype
  • 47
  • PDF
KBG syndrome: 16q24.3 microdeletion in an Indian patient.
...
1
2
...

References

SHOWING 1-10 OF 10 REFERENCES
Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG‐like syndrome
  • 33
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
  • 158
  • Highly Influential
  • PDF
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
  • 82
  • Highly Influential
  • PDF
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms
  • 35
  • PDF
ANKRD11 gene deletion in a 17-year-old male.
  • 22
Twins with KBG Syndrome and Autism
  • 7
KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria
  • 49
The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype
  • 19
The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies.
  • 80
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria.
  • 25