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?

Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; Morris, Michael A; Antonarakis, Stylianos; Bottani, Armand

doi:10.1016/j.ejmg.2011.11.001

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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?
Authors		Makrythanasis, Periklis Gimelli, Stefania Sloan Bena, Frédérique Dahoun, Sophie Morris, Michael A Antonarakis, Stylianos Bottani, Armand
Published in		European Journal of Medical Genetics. 2012, vol. 55, no. 1, p. 63-6
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.
Keywords		Abnormalities, Multiple/genetics — Alleles — Autistic Disorder/genetics — Base Sequence — Child, Preschool — Chromosome Deletion — Chromosomes, Human, Pair 4/genetics — Cognition Disorders/genetics — Comparative Genomic Hybridization — Consanguinity — Conserved Sequence — Deafness/genetics — Homozygote — Humans — Male — Phenotype — Polydactyly/genetics
Identifiers		DOI: 10.1016/j.ejmg.2011.11.001 PMID: 22080113
Full text		Article (Published version) (938 Kb) - Limited access to UNIGE
Structures		Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement
Research group		Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
Citation (ISO format)		MAKRYTHANASIS, Periklis et al. 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?. In: European Journal of Medical Genetics, 2012, vol. 55, n° 1, p. 63-6. doi: 10.1016/j.ejmg.2011.11.001 https://archive-ouverte.unige.ch/unige:34656

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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?