An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy
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 pro...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Case Reports in Nephrology |
| Online Access: | http://dx.doi.org/10.1155/2016/3181676 |
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| author | Sheena Sharma Jennifer M. Kalish Ethan M. Goldberg Francis Jeshira Reynoso Madhura Pradhan |
| author_facet | Sheena Sharma Jennifer M. Kalish Ethan M. Goldberg Francis Jeshira Reynoso Madhura Pradhan |
| author_sort | Sheena Sharma |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-a875b9bbe91a48a59b86bb8ecddea66f |
| institution | Kabale University |
| issn | 2090-6641 2090-665X |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Nephrology |
| spelling | doaj-art-a875b9bbe91a48a59b86bb8ecddea66f2025-02-03T05:46:15ZengWileyCase Reports in Nephrology2090-66412090-665X2016-01-01201610.1155/2016/31816763181676An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related CiliopathySheena Sharma0Jennifer M. Kalish1Ethan M. Goldberg2Francis Jeshira Reynoso3Madhura Pradhan4Division of Nephrology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USADivision of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USAThe Department of Pediatrics, The Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USADivision of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USADivision of Nephrology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USABackground. 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.http://dx.doi.org/10.1155/2016/3181676 |
| spellingShingle | Sheena Sharma Jennifer M. Kalish Ethan M. Goldberg Francis Jeshira Reynoso Madhura Pradhan An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy Case Reports in Nephrology |
| title | An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy |
| title_full | An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy |
| title_fullStr | An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy |
| title_full_unstemmed | An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy |
| title_short | An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy |
| title_sort | atypical presentation of a male with oral facial digital syndrome type 1 related ciliopathy |
| url | http://dx.doi.org/10.1155/2016/3181676 |
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