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)

Megumi Yoshimura-Furuhata, Akira Nishimura-Tadaki, Yoshiro Amano, Takashi Ehara, Yuko Hamasaki, Masaki Muramatsu, Seiichiro Shishido, Atsushi Aikawa, Riku Hamada, Kenji Ishikura, Hiroshi Hataya, Yoshihiko Hidaka, Shunsuke Noda, Kenichi Koike, Keiko Wakui, Yoshimitsu Fukushima, Naomichi Matsumoto, Midori Awazu, Noriko Miyake, Tomoki Kosho

Research output: Contribution to journalArticle

6 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)592-601
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number3
DOIs
Publication statusPublished - 2015 Mar 1

Fingerprint

Sclerosis
Kidney
Hydronephrosis
Proteinuria
Genes
Chronic Kidney Failure
Chromosome Disorders
Chromosomes, Human, Pair 6
Gene Duplication
Comparative Genomic Hybridization
Hematuria
Kidney Transplantation
Pathology
Cakut
Trisomy 6p Chromosome 6
Proteins

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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). / Yoshimura-Furuhata, Megumi; Nishimura-Tadaki, Akira; Amano, Yoshiro; Ehara, Takashi; Hamasaki, Yuko; Muramatsu, Masaki; Shishido, Seiichiro; Aikawa, Atsushi; Hamada, Riku; Ishikura, Kenji; Hataya, Hiroshi; Hidaka, Yoshihiko; Noda, Shunsuke; Koike, Kenichi; Wakui, Keiko; Fukushima, Yoshimitsu; Matsumoto, Naomichi; Awazu, Midori; Miyake, Noriko; Kosho, Tomoki.

In: American Journal of Medical Genetics, Part A, Vol. 167, No. 3, 01.03.2015, p. 592-601.

Research output: Contribution to journalArticle

Yoshimura-Furuhata, M, Nishimura-Tadaki, A, Amano, Y, Ehara, T, Hamasaki, Y, Muramatsu, M, Shishido, S, Aikawa, A, Hamada, R, Ishikura, K, Hataya, H, Hidaka, Y, Noda, S, Koike, K, Wakui, K, Fukushima, Y, Matsumoto, N, Awazu, M, Miyake, N & Kosho, T 2015, '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)', American Journal of Medical Genetics, Part A, vol. 167, no. 3, pp. 592-601. https://doi.org/10.1002/ajmg.a.36942
Yoshimura-Furuhata, Megumi ; Nishimura-Tadaki, Akira ; Amano, Yoshiro ; Ehara, Takashi ; Hamasaki, Yuko ; Muramatsu, Masaki ; Shishido, Seiichiro ; Aikawa, Atsushi ; Hamada, Riku ; Ishikura, Kenji ; Hataya, Hiroshi ; Hidaka, Yoshihiko ; Noda, Shunsuke ; Koike, Kenichi ; Wakui, Keiko ; Fukushima, Yoshimitsu ; Matsumoto, Naomichi ; Awazu, Midori ; Miyake, Noriko ; Kosho, Tomoki. / 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). In: American Journal of Medical Genetics, Part A. 2015 ; Vol. 167, No. 3. pp. 592-601.
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AU - Ehara, Takashi

AU - Hamasaki, Yuko

AU - Muramatsu, Masaki

AU - Shishido, Seiichiro

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AU - Hamada, Riku

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