Karen Low|Tazeen Ashraf|Natalie Canham|Jill Clayton?Smith|Charu Deshpande|Alan Donaldson|Richard Fisher|Frances Flinter|Nicola Foulds|Alan Fryer|Kate Gibson|Ian Hayes|Alison Hills|Susan Holder|Melita Irving|Shelagh Joss|Emma Kivuva|Katherine Lachlan|Alex Magee|Vivienne McConnell|Meriel McEntagart|Kay Metcalfe|Tara Montgomery|Ruth Newbury?Ecob|Fiona Stewart|Peter D. Turnpenny|Julie Vogt|David R. FitzPatrick|Maggie Williams|Sarah Smithson
Clinical and genetic aspects of KBG syndrome
University of Bristol|University Hospitals Bristol NHS Foundation Trust|Guy's and St Thomas' NHS Foundation Trust|Wessex Regional Genetics Laboratory|St Mary's Hospital|University of Manchester|Guy's and St Thomas' NHS Foundation Trust|University Hospitals Bristol NHS Foundation Trust|University of Bristol|James Cook University Hospital|Guy's and St Thomas' NHS Foundation Trust|Wessex Regional Genetics Laboratory|Liverpool Womens NHS Foundation Trust|University of Liverpool|Christchurch Hospital|Auckland City Hospital|North Bristol NHS Trust|Wessex Regional Genetics Laboratory|Guy's and St Thomas' NHS Foundation Trust|Beatson West of Scotland Cancer Centre|Royal Devon and Exeter Hospital|Wessex Regional Genetics Laboratory|Belfast City Hospital|University of Ulster|University of Ulster|Belfast City Hospital|St George's Hospital|St Mary's Hospital|University Hospitals Bristol NHS Foundation Trust|University of Bristol|University of Ulster|Belfast City Hospital|Royal Devon and Exeter Hospital|Wessex Regional Genetics Laboratory|MRC Institute of Genetics and Molecular Medicine|University of Edinburgh|North Bristol NHS Trust|University Hospitals Bristol NHS Foundation Trust|University of Bristol
kbg syndrome characterized short stature distinctive facial features developmentalcognitive delay caused mutations ankrd11 one ankyrin repeatcontaining cofactors describe 32 kbg patients aged 247 years 27 families ascertained via two pathways targeted ankrd11 sequencing ts group clinical diagnosis kbg whole exome sequencing es second group diagnosis unknown speech delay learning difficulties almost universal variable behavioral problems frequent macrodontia permanent upper central incisors seen 85 clinical features included short stature conductive hearing loss recurrent middle ear infection palatal abnormalities feeding difficulties recognized new feature wide anterior fontanelle delayed closure 22 subtle facial features kbg syndrome recognizable half patients identified 20 ankrd11 mutations 18 novel truncating confirmed sanger sequencing 32 patients comparison two ascertainment groups demonstrated facialother typical features subtle es group conclusive phenotypegenotype correlations findings suggest mutation ankrd11 common mendelian cause developmental delay affected patients may show characteristic kbg phenotype diagnosis therefore easily missed propose updated diagnostic criteriaclinical recommendations kbg syndrome suggest inclusion ankrd11 increase utility gene panels designed investigate developmental delay 2016 authors american journal medical genetics part published wiley periodicals inc