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This locus encodes an ankryin repeat domain-containing protein.
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exome sequencing identified a novel de novo heterozygous single base pair duplication (c.6015dupA) in ANKRD11, which is predicted to lead to a premature stop codon and loss of function in ANKRD11, thereby implicating it as contributing to the molecular diagnosis of KBG syndrome.
Here we report a large series of 39 patients with KBG syndrome; these patients harbored ANKRD11 mutations (20 cases) or deletions (19 cases). All the mutations were found by targeted molecular analysis on patients with clinical features suggestive of KBG.
Twelve novel cases of haploinsufficiency for ANKRD11-flanking genes make the difference between KBG and 16q24.3 microdeletion syndromes.
These findings point out the importance of screening ANKRD11 in young CdLS (显示 NIPBL 抗体) patients who were found to be negative for mutations in the five known CdLS (显示 NIPBL 抗体) genes.
Further delineation of the KBG syndrome phenotype on large patients cohort caused by ANKRD11 aberrations has been presented.
we conclude that severe short stature, intellectual disability, and macrodontia are the main characteristics in KBG syndrome related to ANKRD11 mutation
ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome.
AIB1 (显示 NCOA3 抗体), AIB1 (显示 NCOA3 抗体)-delta4 and ANCO1 (显示 ANKRD12 抗体) are important determinants of endocrine and growth factor responsiveness in breast cancer.
The complete neurological and psychiatric features observed in two patients with KBG syndrome due to ANKRD11 mutations, are reported.
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
A Glu (显示 GCG 抗体)->Lys (显示 LYZ 抗体) missense mutation in a highly conserved region causes osteopenia and craniofacial abnormalities. Homozygosity causes embryo death. Ankrd11 is a genetic regular of bone homeostasis.
This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X.
ankyrin repeat domain-containing protein 11
, ankyrin repeat-containing cofactor 1
, nasopharyngeal carcinoma susceptibility protein
, ankyrin repeat domain 11
, ankyrin repeat domain-containing protein 11-like