UNASSIGNED: Loss-of-function variants in @entity7460 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. We present the largest cohort of KBG syndrome cases confirmed by @entity7460 variants reported so far, consisting of 20 @entity1 from 13 families. Sixteen @entity1 were molecularly diagnosed by Sanger sequencing of @entity7460 , one familial case and three sporadic @entity1 were diagnosed through whole-exome sequencing and one @entity1 was identified through genomewide array analysis. All @entity1 were evaluated by a clinical geneticist. Detailed orofacial phenotyping, including orthodontic evaluation, intra-oral photographs and orthopantomograms, was performed in 10 @entity1 and revealed besides the hallmark feature of macrodontia of central upper incisors, several additional dental anomalies as oligodontia, talon cusps and macrodontia of other teeth. Three-dimensional (3D) stereophotogrammetry was performed in 14 @entity1 and 3D analysis of @entity1 compared with controls showed consistent facial dysmorphisms comprising a bulbous nasal tip, upturned nose with a broad base and a round or triangular face. Many @entity1 exhibited neurobehavioural problems, such as autism spectrum disorder or hyperactivity. One-third of @entity1 presented with (conductive) hearing loss. Congenital heart defects, velopharyngeal insufficiency and hip anomalies were less frequent. On the basis of our observations, we recommend cardiac assessment in @entity1 and regular hearing tests in all individuals with a molecular diagnosis of KBG syndrome. As @entity7460 is a relatively common gene in which sequence variants have been identified in individuals with neurodevelopmental disorders, it seems an important contributor to the aetiology of both sporadic and familial cases.

Further delineation of the KBG syndrome phenotype caused by XXXX aberrations.

@entity1 :: ('9606', 'Species') :: ['patients', 'children', 'patient'] @entity7460 :: ('29123', 'Gene') :: ['ANKRD11']
@entity7460 :: (29123,Gene) :: ['ANKRD11']
