title: Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3.
abstract: The clinical and molecular characterizations of two patients with a 1.4 Mb overlapping deletion in the 6p25.1p24.3 region are reported. In addition to the mild intellectual disability, they shared feeding problems in infancy and several dysmorphic facial features including a prominent forehead, almond-shaped eyes, a short philtrum, and low-set ears with square helices. The overlapping deleted region harbors six genes (RREB1, NRN1, CAGE1, LY86, SSR1, and F13A1), of which NRN1 and RREB1 are considered as candidate genes for the intellectual disability and the overlapping dysmorphism, respectively.
authors.affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: Bart C W
authors.initials: BC
authors.lastname: Kuipers
authors.forename: Anneke T
authors.initials: AT
authors.lastname: Vulto-van Silfhout
authors.forename: Carlo
authors.initials: C
authors.lastname: Marcelis
authors.forename: Rolph
authors.initials: R
authors.lastname: Pfundt
authors.forename: Nicole
authors.initials: N
authors.lastname: de Leeuw
authors.forename: Bert B A
authors.initials: BB
authors.lastname: de Vries
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D005146:Facial Asymmetry / Q000235:genetics*; D005260:Female; D058851:GPI-Linked Proteins / Q000235:genetics; D057895:Haploinsufficiency; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009479:Neuropeptides / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D013576:Syndactyly / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D058851:GPI-Linked Proteins; C484539:NRN1 protein, human; D009479:Neuropeptides; C101743:RREB1 protein, human; D014157:Transcription Factors