title: A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.
abstract: Interstitial deletions of the proximal chromosome 16q are rare. To date, only six cases with molecularly well-characterized microdeletions within this chromosomal region have been described. We report on a patient with severe psychomotor delay, dysmorphic features, microcephaly and hypoplasia of the corpus callosum, epilepsy, a heart defect, and pronounced muscular hypotonia. Array comparative genomic hybridization (aCGH) revealed that the patient's features were likely caused by a 4.7 Mb de novo deletion on chromosome 16q12.1q12.2, which was confirmed by quantitative real-time PCR (qPCR). The psychomotor delay and craniofacial dysmorphism are more severe in our patient than previously reported patients. Unmasked recessive mutations in the ZNF423 and FTO genes on the remaining allele were excluded as the putative cause for this severe phenotype. In conclusion, the phenotypic spectrum of microdeletions in 16q12 is broad and comprises variable degrees of psychomotor delay and intellectual disability, craniofacial anomalies, and additional features, including heart defects, brain malformations, and limb anomalies.
authors.affiliation: Institute of Human Genetics, Georg August University, Göttingen, Germany. moneef.shoukier@med.uni-goettingen.de
authors.forename: Moneef
authors.initials: M
authors.lastname: Shoukier
authors.forename: Julia
authors.initials: J
authors.lastname: Wickert
authors.forename: Julia
authors.initials: J
authors.lastname: Schröder
authors.forename: Iris
authors.initials: I
authors.lastname: Bartels
authors.forename: Bernd
authors.initials: B
authors.lastname: Auber
authors.forename: Barbara
authors.initials: B
authors.lastname: Zoll
authors.forename: Gabriela
authors.initials: G
authors.lastname: Salinas-Riester
authors.forename: Dagmar
authors.initials: D
authors.lastname: Weise
authors.forename: Knut
authors.initials: K
authors.lastname: Brockmann
authors.forename: Birgit
authors.initials: B
authors.lastname: Zirn
authors.forename: Peter
authors.initials: P
authors.lastname: Burfeind
mesh_terms: D000071516:Alpha-Ketoglutarate-Dependent Dioxygenase FTO; D001921:Brain / Q000002:abnormalities*; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005121:Extremities / Q000033:anatomy & histology; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009123:Muscle Hypotonia / Q000235:genetics; D010641:Phenotype; D011506:Proteins / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction
chemical_list: D011506:Proteins; D000071516:Alpha-Ketoglutarate-Dependent Dioxygenase FTO; C526492:FTO protein, human