Daughter and Mother with Orofaciodigital Syndrome Type 1 and Glomerulocystic Kidney Disease

• Published in: Human pathology Vol. 55; pp. 24 - 29
• Main Authors: Iijima, Takashi, MD, Hoshino, Junichi, MD, Mise, Koki, MD, Sumida, Keiichi, MD, Suwabe, Tatsuya, MD, Hayami, Noriko, Ueno, Toshiharu, MD,MD, Takaichi, Kenmei, MD, Fujii, Takeshi, MD, Ohashi, Kenichi, MD, Morisada, Naoya, MD, Iijima, Kazumoto, MD, Ubara, Yoshifumi, MD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-09-2016; Elsevier Limited
• Subjects: Adult; Anemia; Biopsy; Blood; Brachydactyly; Canine defect; Cysts; Disease Progression; DNA Mutational Analysis; Edema; Exons; Female; Fingers & toes; Frameshift Mutation; Genes; Genetic Predisposition to Disease; Glomerulocystic kidney disease; Heredity; Humans; Immunoglobulins; Kidney diseases; Kidney Failure, Chronic - diagnosis; Kidney Failure, Chronic - genetics; Kidney Glomerulus - pathology; Laboratories; Liver; Magnetic Resonance Imaging; Microscopy; Mothers; Mutation; NMR; Nuclear magnetic resonance; Orofaciodigital syndrome type 1; Orofaciodigital Syndromes - diagnosis; Orofaciodigital Syndromes - genetics; Pathology; Patients; Pedigree; Phenotype; Polycystic kidney disease; Polycystic Kidney Diseases - diagnosis; Polycystic Kidney Diseases - genetics; Proteins; Proteins - genetics; Sequence Deletion; Ultrasonic imaging; Women; X-linked dominant inheritance; X-linked dominant inheritance; orofaciodigital syndrome type 1; polycystic kidney disease; glomerulocystic kidney disease; Canine defect; Orofaciodigital syndrome type 1; Glomerulocystic kidney disease; Brachydactyly; Polycystic kidney disease
• ISSN: 0046-8177; 1532-8392
• DOI: 10.1016/j.humpath.2016.04.005

Summary A 35-year-old woman was admitted to our hospital for evaluation of end-stage renal failure. Diagnostic imaging, including ultrasonography and MRI, 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(OFD1) with 5 oligonucleotide deletions 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 OFD1.