title: Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?
abstract: We report a male patient, offspring of a consanguineous marriage between first cousins, with cognitive impairment, autistic-like behavior, deafness, postaxial polydactyly, and mild dysmorphic features. aCGH revealed a 600 kb homozygous deletion of 4p15.1 (from 33.553 to 34.159 Mb in NCBI36 hg18) encoding several transcripts of unknown function. Both parents are heterozygous for the deletion and the non-affected brother is homozygous for the normal alleles. We hypothesize that this deletion is likely to contribute to the phenotype of the patient. This case underlines the contribution of aCGH in discovering potentially pathogenic CNVs in consanguineous matings.
authors.affiliation: Department of Genetic Medicine and Development, Geneva University Medical School, Geneva, Switzerland.
authors.forename: Periklis
authors.initials: P
authors.lastname: Makrythanasis
authors.forename: Stefania
authors.initials: S
authors.lastname: Gimelli
authors.forename: Frédérique
authors.initials: F
authors.lastname: Béna
authors.forename: Sophie
authors.initials: S
authors.lastname: Dahoun
authors.forename: Michael A
authors.initials: MA
authors.lastname: Morris
authors.forename: Stylianos E
authors.initials: SE
authors.lastname: Antonarakis
authors.forename: Armand
authors.initials: A
authors.lastname: Bottani
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000483:Alleles; D001321:Autistic Disorder / Q000235:genetics; D001483:Base Sequence; D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics; D055028:Comparative Genomic Hybridization; D003241:Consanguinity; D017124:Conserved Sequence; D003638:Deafness / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D017689:Polydactyly / Q000235:genetics