title: Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease.
abstract: A 35-year-old woman was admitted to our hospital for evaluation of end-stage renal failure. Diagnostic imaging, including ultrasonography and magnetic resonance imaging, showed polycystic kidneys and peribiliary hepatic cysts, but the renal cysts were isointense and her kidneys were smaller than the end-stage kidneys of patients with autosomal dominant polycystic kidney disease. Glomerulocystic kidney disease was diagnosed by renal biopsy. Clinical examination revealed findings such as a missing maxillary canine, lingual anomalies, and brachydactyly. Genetic testing gave a diagnosis of orofaciodigital syndrome type 1 with a 5 nucleotide deletion indicating a frameshift mutation in exon 9. The patient's mother had the same mutation and similar clinical findings. This case is useful for understanding kidney and liver involvement in orofaciodigital syndrome type 1.
authors.affiliation: Nephrology Center, Toranomon Hospital Kajigaya, Kanagawa 213-0015, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Iijima
authors.affiliation: Nephrology Center, Toranomon Hospital Kajigaya, Kanagawa 213-0015, Japan. Electronic address: hoshino@toranomon.gr.jp.
authors.forename: Junichi
authors.initials: J
authors.lastname: Hoshino
authors.affiliation: Nephrology Center, Toranomon Hospital Kajigaya, Kanagawa 213-0015, Japan.
authors.forename: Koki
authors.initials: K
authors.lastname: Mise
authors.affiliation: Nephrology Center, Toranomon Hospital Kajigaya, Kanagawa 213-0015, Japan.
authors.forename: Keiichi
authors.initials: K
authors.lastname: Sumida
authors.affiliation: Nephrology Center, Toranomon Hospital Kajigaya, Kanagawa 213-0015, Japan.
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Suwabe
authors.affiliation: Nephrology Center, Toranomon Hospital Kajigaya, Kanagawa 213-0015, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Hayami
authors.affiliation: Nephrology Center, Toranomon Hospital Kajigaya, Kanagawa 213-0015, Japan.
authors.forename: Toshiharu
authors.initials: T
authors.lastname: Ueno
authors.affiliation: Nephrology Center, Toranomon Hospital Kajigaya, Kanagawa 213-0015, Japan; Okinaka Memorial Institute for Medical Research, Toranomon Hospital, Tokyo 105-0001, Japan.
authors.forename: Kenmei
authors.initials: K
authors.lastname: Takaichi
authors.affiliation: Department of Pathology, Toranomon Hospital, Tokyo 105-0001, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Fujii
authors.affiliation: Department of Pathology, Toranomon Hospital, Tokyo 105-0001, Japan; Department of Pathology, Yokohama City University, Graduate School of Medicine, Yokohama 236-0027, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Ohashi
authors.affiliation: Department of Pediatrics, Kobe University, Kobe 650-0017, Japan.
authors.forename: Naoya
authors.initials: N
authors.lastname: Morisada
authors.affiliation: Department of Pediatrics, Kobe University, Kobe 650-0017, Japan.
authors.forename: Kazumoto
authors.initials: K
authors.lastname: Iijima
authors.affiliation: Nephrology Center, Toranomon Hospital Kajigaya, Kanagawa 213-0015, Japan; Okinaka Memorial Institute for Medical Research, Toranomon Hospital, Tokyo 105-0001, Japan.
authors.forename: Yoshifumi
authors.initials: Y
authors.lastname: Ubara
mesh_terms: D000328:Adult; D001706:Biopsy; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D007676:Kidney Failure, Chronic / Q000175:diagnosis / Q000235:genetics; D007678:Kidney Glomerulus / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009035:Mothers; D009958:Orofaciodigital Syndromes / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D007690:Polycystic Kidney Diseases / Q000175:diagnosis / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: C115130:OFD1 protein, human; D011506:Proteins
keywords: Brachydactyly; Canine defect; Glomerulocystic kidney disease; Orofaciodigital syndrome type 1; Polycystic kidney disease; X-linked dominant inheritance