A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.
We report on a 21-year old woman with intellectual disability, autistic features, severe obesity, and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome (WHS). Array-CGH analysis showed a 2.89 Mb deletion on chromosome 14q11.2 containing 47 known genes. The most interesting genes included in this deletion are CHD8, a chromodomain helicase DNA binding protein that is associated with autism spectrum disorders, and MMP14, a matrix metalloproteinase that has been linked to obesity and type 2 diabetes. This report shows that 14q11.2 microdeletions can mimic WHS and suggests that gene(s) in the deleted interval that may be responsible for a phenocopy of WHS.
Department of Translational Medicine (Section of Pediatrics), Federico II University, Naples, Italy.
Gaetano
G
Terrone
Gerarda
G
Cappuccio
Rita
R
Genesio
Annalisa
A
Esposito
Valeria
V
Fiorentino
Marina
M
Riccitelli
Lucio
L
Nitsch
Nicola
N
Brunetti-Pierri
Ennio
E
Del Giudice
D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D019066:Facies; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009765:Obesity / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D054877:Wolf-Hirschhorn Syndrome / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
14q11.2 microdeletion syndrome; CHD8 gene; MMP14 gene; Wolf-Hirschhorn syndrome