title: Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.
abstract: Deletions of 6q are known to be associated with variable clinical phenotypes including facial dysmorphism, hand malformations, heart defects, microcephaly, intellectual disability, epilepsy, and other neurodevelopmental and neuropsychiatric conditions. Here, we report a 7-year-old boy evaluated for facial dysmorphism, trigonocephaly, microcephaly, global developmental delay, and behavioral abnormalities. Molecular karyotyping revealed a 13-Mb deletion within 6q21-q22.31, (chr6:105,771,520-119,130,805; hg19, GRch37) comprising 81 genes. Review of 15 cases with interstitial 6q21-q22.3 deletion from the literature showed that facial dysmorphism, intellectual disability, and corpus callosum abnormalities are the most consistent clinical features in these individuals. Deleted genes and breakpoints in the 6q21-q22 region of the patient reported here are similar to two earlier reported cases with the clinical diagnosis of Acro-Cardio-Facial syndrome. However, the present case lacks characteristic clinical findings of Acro-Cardio-Facial syndrome. We discuss, the considerable phenotypic variability seen in individuals with 6q21-q22 microdeletion and emphasize the need for further scrutiny into the hypothesis of Acro-Cardio-Facial syndrome being a microdeletion syndrome. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India. anju.shukla@manipal.edu.
authors.forename: Anju
authors.initials: A
authors.lastname: Shukla
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
authors.forename: Malavika
authors.initials: M
authors.lastname: Hebbar
authors.affiliation: Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Frederike L
authors.initials: FL
authors.lastname: Harms
authors.affiliation: Department of Radiodiagnosis, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
authors.forename: Rajagopal
authors.initials: R
authors.lastname: Kadavigere
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
authors.forename: Katta M
authors.initials: KM
authors.lastname: Girisha
authors.affiliation: Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Kerstin
authors.initials: K
authors.lastname: Kutsche
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D001921:Brain / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations; D005091:Exons; D019066:Facies; D000077614:Golgi Matrix Proteins; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D026901:Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics; D010641:Phenotype; D012697:Serine Endopeptidases / Q000235:genetics; D013577:Syndrome; D014057:Tomography, X-Ray Computed
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C434484:GOPC protein, human; D000077614:Golgi Matrix Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D024101:Mitochondrial Proteins; C514899:PREP protein, human; D012697:Serine Endopeptidases
keywords: 6q microdeletion; 6q21-q22 microdeletion; Acro-Cardio-Facial syndrome; corpus callosum abnormality; intellectual disability