title: Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).
abstract: 6p duplication syndrome is a rare chromosomal disorder that frequently manifests renal complications, including proteinuria, hypoplastic kidney, and hydronephrosis. We report a girl with the syndrome, manifesting left hydronephrosis, proteinuria/hematuria, and focal segmental glomerular sclerosis (FSGS) resulting in chronic end-stage renal failure, successfully treated with renal transplantation. Microarray comparative genomic hybridization showed the derivative chromosome 6 to have a 6.4-Mb duplication at 6p25.3-p25.1 with 32 protein-coding genes and a 220-Kb deletion at 6p25.3 with two genes of no possible relation to the renal pathology. Review of the literature shows that variation of renal complications in the syndrome is compatible with congenital anomalies of the kidney and urinary tract (CAKUT). FSGS, observed in another patient with 6p duplication syndrome, could be a non-coincidental complication. FOXC1, located within the 6.4-Mb duplicated region at 6p25.3-p25.2, could be a candidate gene for CAKUT, but its single gene duplication effect would not be sufficient. FSGS would be a primary defect associated with duplicated gene(s) albeit no candidate could be proposed, or might occur in association with CAKUT.
authors.affiliation: Department of Pediatrics, Nagano Red Cross Hospital, Nagano, Japan; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Megumi
authors.initials: M
authors.lastname: Yoshimura-Furuhata
authors.forename: Akira
authors.initials: A
authors.lastname: Nishimura-Tadaki
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Amano
authors.forename: Takashi
authors.initials: T
authors.lastname: Ehara
authors.forename: Yuko
authors.initials: Y
authors.lastname: Hamasaki
authors.forename: Masaki
authors.initials: M
authors.lastname: Muramatsu
authors.forename: Seiichiro
authors.initials: S
authors.lastname: Shishido
authors.forename: Atsushi
authors.initials: A
authors.lastname: Aikawa
authors.forename: Riku
authors.initials: R
authors.lastname: Hamada
authors.forename: Kenji
authors.initials: K
authors.lastname: Ishikura
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Hataya
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Hidaka
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Noda
authors.forename: Kenichi
authors.initials: K
authors.lastname: Koike
authors.forename: Keiko
authors.initials: K
authors.lastname: Wakui
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.forename: Midori
authors.initials: M
authors.lastname: Awazu
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Tomoki
authors.initials: T
authors.lastname: Kosho
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D001706:Biopsy; D002648:Child; D002871:Chromosome Banding; D002896:Chromosomes, Human, Pair 6; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D055106:Genome-Wide Association Study; D005923:Glomerulosclerosis, Focal Segmental / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006869:Hydronephrosis / Q000175:diagnosis / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities / Q000473:pathology; D011507:Proteinuria / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014314:Trisomy; D014463:Ultrasonography; D014551:Urinary Tract / Q000002:abnormalities
keywords: 6p duplication syndrome; congenital anomalies of kidney and urinary tract (CAKUT); focal segmental glomerular sclerosis (FSGS); forkhead transcription factor 1 (FOXC1); microarray comparative genomic hybridization