title: A de novo 1.38 Mb duplication of 1q31.1 in a boy with hemifacial microsomia, anophthalmia, anotia, macrostomia, and cleft lip and palate.
abstract: We reported a 2-year-old boy with developmental delay, mild mental retardation, and severe craniofacial malformation, including facial asymmetry with hypoplasia of the left zygoma, maxilla, and mandible, and left anophthalmia and anotia. A genome-wide screen revealed a 1.38 Mb duplication on chromosome 1q31.1, which was absent in his parents and 27 healthy controls. The duplication region contains two Refseq genes, PLA2G4A and C1orf99, which have not been reported to be implicated in craniofacial malformation. Functional studies of these genes and additional clinical analysis are necessary to elucidate the pathogenesis of craniofacial malformation.
authors: Department of Medical Genetics, Huaihua School of Medicine, Huaihua, China.
authors: Xue-shuang
authors: XS
authors: Huang
authors: Bao
authors: B
authors: Zhu
authors: Hai-ou
authors: HO
authors: Jiang
authors: Su-fan
authors: SF
authors: Wu
authors: Zai-qi
authors: ZQ
authors: Zhang
authors: Lin
authors: L
authors: Xiao
authors: Li-lan
authors: LL
authors: Yi
authors: Jian-xiang
authors: JX
authors: Zhang
mesh_terms: D000853:Anophthalmos / Q000235:genetics*; D002675:Child, Preschool; D058674:Chromosome Duplication; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D000013:Congenital Abnormalities / Q000235:genetics*; D065817:Congenital Microtia; D004423:Ear / Q000002:abnormalities; D005146:Facial Asymmetry / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008265:Macrostomia / Q000235:genetics*; D008297:Male; D009154:Mutation