title: An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy.
abstract: Background. Oral-facial-digital syndrome type 1 (OFD1) is a rare condition with X-linked dominant inheritance caused by mutations in the Cxorf5 (OFD1) gene. This gene encodes the OFD1 protein located within centrosomes and basal bodies of primary cilia. Approximately 15-50% of patients with OFD1 progress to end-stage kidney disease following development of polycystic changes within the kidneys. This condition almost always causes intrauterine lethality in males. Description of Case Diagnosis and Treatment. A Caucasian male aged 9 years and 9 months presented with increased urinary frequency, increased thirst, and decreased appetite. Physical examination demonstrated short stature, hearing loss, photophobia, murmur, and hypogonadism. He had no other dysmorphic features. Laboratory results revealed anemia, renal insufficiency, and dilute urine with microscopic hematuria but no proteinuria. Ultrasound showed small kidneys with increased echogenicity but no evidence of cystic changes. A Ciliopathy Panel showed a novel and likely pathogenic deletion, approximately 7.9 kb, in the OFD1 gene encompassing exons 16, 17, and 19 (c.1654+833_2599+423del). Brain MRI did not demonstrate typical OFD1 findings. He is currently on chronic hemodialysis awaiting transplant from a living donor. Conclusions. We present a male patient with OFD1 mutation who lacks the classic OFD1 phenotype who presented with end-stage renal disease without evidence of polycystic changes within the kidneys.
authors.affiliation: Division of Nephrology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Sheena
authors.identifier: 0000-0001-6358-7505
authors.initials: S
authors.lastname: Sharma
authors.affiliation: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; The Department of Pediatrics, The Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Jennifer M
authors.identifier: 0000-0003-1500-9713
authors.initials: JM
authors.lastname: Kalish
authors.affiliation: The Department of Pediatrics, The Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, The Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Ethan M
authors.initials: EM
authors.lastname: Goldberg
authors.affiliation: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Francis Jeshira
authors.initials: FJ
authors.lastname: Reynoso
authors.affiliation: Division of Nephrology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; The Department of Pediatrics, The Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Madhura
authors.initials: M
authors.lastname: Pradhan