title: Microdeletion 1p35.2: a recognizable facial phenotype with developmental delay.
abstract: We describe two patients with microdeletion 1p35.2, intrauterine growth retardation, small stature, hypermetropia, hearing impairment and developmental delay. Both patients have long, myopathic facies, with fine eyebrows, small mouths and micrognathia. We postulate a role for the histone deacetylase HDAC1 in the facial phenotype and suggest that deletion of KPNA6 may prevent transmission of the 1p35.2 deletion from affected girls to any offspring through impaired zygotic genome activation.
authors.affiliation: Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.|Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, UK.
authors.forename: Brian T
authors.initials: BT
authors.lastname: Wilson
authors.affiliation: National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Ireland.
authors.forename: Murwan
authors.initials: M
authors.lastname: Omer
authors.affiliation: Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, UK.
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Hellens
authors.affiliation: Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, UK.
authors.forename: Simon A
authors.initials: SA
authors.lastname: Zwolinski
authors.affiliation: Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.|Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, UK.
authors.forename: Laura M
authors.initials: LM
authors.lastname: Yates
authors.affiliation: National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Ireland.
authors.forename: Sally Ann
authors.initials: SA
authors.lastname: Lynch
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002658:Developmental Disabilities / Q000628:therapy*; D005260:Female; D006801:Humans; D010641:Phenotype
keywords: HDAC1 histone deacetylase; deletion 1p35.2; human; karyopherin alpha 6 (importin alpha 7)