Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome (HSC) is a rare multisystem disease in which the phenotype involves acro-osteolysis, severe osteoporosis, short stature, wormian bones, facial dysmorphism, central neurological abnormalities, cardiovascular defects, and polycystic kidneys. We describe an infant with severe mani...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2018/2508345 |
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| author | L. Swan G. Gole V. Sabesan J. Cardinal D. Coman |
| author_facet | L. Swan G. Gole V. Sabesan J. Cardinal D. Coman |
| author_sort | L. Swan |
| collection | DOAJ |
| description | Hajdu-Cheney Syndrome (HSC) is a rare multisystem disease in which the phenotype involves acro-osteolysis, severe osteoporosis, short stature, wormian bones, facial dysmorphism, central neurological abnormalities, cardiovascular defects, and polycystic kidneys. We describe an infant with severe manifestations of HCS in whom congenital glaucoma was a significant early feature, which has not been reported to date. HCS cases reported to date have involved truncating mutations in exon 34 of NOTCH2 upstream the PEST domain that lead to the development of a truncated and stable NOTCH2 protein which upregluates notch signaling. We describe a hitherto undescribed missense mutation that is predicted to be pathogenic, with functional characterization remaining to be performed. Serpentine fibula-polycystic kidney syndrome (SFPKS) is allelic to HCS and commonly associated with missense NOTCH2 mutations. Our patient provides new ophthalmological manifestations of HCS and provides insight into the potential role of notch signaling in the anterior chamber development. |
| format | Article |
| id | doaj-art-0f2ad2cff4b24e19bfbec8d52592ed93 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-0f2ad2cff4b24e19bfbec8d52592ed932025-02-03T01:21:35ZengWileyCase Reports in Genetics2090-65442090-65522018-01-01201810.1155/2018/25083452508345Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney SyndromeL. Swan0G. Gole1V. Sabesan2J. Cardinal3D. Coman4Department of Paediatrics, The Wesley Hospital, Brisbane, AustraliaDepartment of Ophthalmology, The Lady Cilento Children’s Hospital, Brisbane, AustraliaDepartment of Paediatrics, The Townsville General Hospital, Townsville, AustraliaCardinal Bioresearch, Brisbane, AustraliaDepartment of Paediatrics, The Wesley Hospital, Brisbane, AustraliaHajdu-Cheney Syndrome (HSC) is a rare multisystem disease in which the phenotype involves acro-osteolysis, severe osteoporosis, short stature, wormian bones, facial dysmorphism, central neurological abnormalities, cardiovascular defects, and polycystic kidneys. We describe an infant with severe manifestations of HCS in whom congenital glaucoma was a significant early feature, which has not been reported to date. HCS cases reported to date have involved truncating mutations in exon 34 of NOTCH2 upstream the PEST domain that lead to the development of a truncated and stable NOTCH2 protein which upregluates notch signaling. We describe a hitherto undescribed missense mutation that is predicted to be pathogenic, with functional characterization remaining to be performed. Serpentine fibula-polycystic kidney syndrome (SFPKS) is allelic to HCS and commonly associated with missense NOTCH2 mutations. Our patient provides new ophthalmological manifestations of HCS and provides insight into the potential role of notch signaling in the anterior chamber development.http://dx.doi.org/10.1155/2018/2508345 |
| spellingShingle | L. Swan G. Gole V. Sabesan J. Cardinal D. Coman Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome Case Reports in Genetics |
| title | Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome |
| title_full | Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome |
| title_fullStr | Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome |
| title_full_unstemmed | Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome |
| title_short | Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome |
| title_sort | congenital glaucoma a novel ocular manifestation of hajdu cheney syndrome |
| url | http://dx.doi.org/10.1155/2018/2508345 |
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