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Text
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URL Address
<a href="http://doi.org/10.1002/ajmg.a.35739" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.a.35739</a>
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Pages
835-840
Issue
4
Volume
161A
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Title
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Partial Deletion Of Ankrd11 Results In The Kbg Phenotype Distinct From The 16q24.3 Microdeletion Syndrome
Publisher
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American Journal of Medical Genetics Part A
Date
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2013
2013-04
Subject
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16q24; 3; ANKRD11; ASD; autism; delineation; diagnostic-criteria; Genetics & Heredity; KBG; macrodontia; MCA; microdeletion; mosaicism; MR
Creator
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Khalifa M; Stein J; Grau L; Nelson V; Meck J; Aradhya S; Duby J
Description
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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 in the 16q24.3 region that includes ANKRD11 results in a variable phenotype that overlaps with KBG syndrome and also includes autism spectrum disorders and other dysmorphic facial features. In this report we present a 21/2-year-old African American male with features highly suggestive of KBG syndrome. Genomic microarray identified an intragenic 154kb deletion at 16q24.3 within ANKRD11. This child's mother was mosaic for the same deletion (present in approximately 38% of cells) and exhibited a milder phenotype including macrodontia, short stature and brachydactyly. This family provides additional evidence that ANKRD11 causes KBG syndrome, and the mild phenotype in the mosaic form suggests that KBG phenotypes might be dose dependent, differentiating it from the more variable 16q24.3 microdeletion syndrome. This family has additional features that might expand the phenotype of KBG syndrome. (c) 2013 Wiley Periodicals, Inc.
Identifier
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<a href="http://doi.org/10.1002/ajmg.a.35739" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.35739</a>
Format
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Journal Article or Conference Abstract Publication
16q24
2013
3
American Journal of Medical Genetics Part A
ANKRD11
Aradhya S
ASD
autism
delineation
diagnostic-criteria
Duby J
Genetics & Heredity
Grau L
Journal Article or Conference Abstract Publication
KBG
Khalifa M
macrodontia
MCA
Meck J
microdeletion
mosaicism
mr
Nelson V
Stein J