title: Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
abstract: X-linked retinal dystrophies (XLRD) are listed among the most severe RD owing to their early onset, leading to significant visual loss before the age of 30. One-third of XLRD are accounted for by RP2 mutations at the Xp11.23 locus. Deletions of ca. 1.2 Mb in the Xp11.3-p11.23 region have been previously reported in two independent families segregating XLRD with intellectual disability (ID). Although the RD was ascribed to the deletion of RP2, the ID was suggested to be accounted for by the loss of ZNF674, which mutations were independently reported to account for isolated XLID. Here, we report deletions in the Xp11.3-p11.23 region responsible for the loss of ZNF674 in two unrelated families segregating XLRD, but no ID, identified by chromosomal microarray analysis. These findings question the responsibility of ZNF674 deletions in ID associated with X-linked retinal dystrophy.
authors: INSERM U781 - Department of Genetics/Fondation IMAGINE and Paris Descartes University, CHU Necker Enfants Malades, Paris, France.
authors: Nathalie
authors: N
authors: Delphin
authors: Sylvain
authors: S
authors: Hanein
authors: Lucas Fares
authors: LF
authors: Taie
authors: Xavier
authors: X
authors: Zanlonghi
authors: Dominique
authors: D
authors: Bonneau
authors: Jean-Paul
authors: JP
authors: Moisan
authors: Christine
authors: C
authors: Boyle
authors: Patrick
authors: P
authors: Nitschke
authors: Solenn
authors: S
authors: Pruvost
authors: Jean-Paul
authors: JP
authors: Bonnefont
authors: Arnold
authors: A
authors: Munnich
authors: Olivier
authors: O
authors: Roche
authors: Josseline
authors: J
authors: Kaplan
authors: Jean-Michel
authors: JM
authors: Rozet
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X; D055028:Comparative Genomic Hybridization; D005136:Eye Proteins / Q000235:genetics; D019204:GTP-Binding Proteins; D017353:Gene Deletion; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000235:genetics*; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D058499:Retinal Dystrophies / Q000150:complications / Q000235:genetics*; D013577:Syndrome; D055815:Young Adult
chemical_list: D005136:Eye Proteins; D047908:Intracellular Signaling Peptides and Proteins; D051741:Kruppel-Like Transcription Factors; D008565:Membrane Proteins; C072178:RP2 protein, human; C523963:ZNF674 protein, human; D019204:GTP-Binding Proteins