Clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosis
BackgroundHorizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder mainly involved in ocular movement and spinal development. It is caused by a roundabout guidance receptor 3 (ROBO3) gene mutation. This study aimed to describe the clinical features of six patients with HGPPS and i...
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| Format: | Article |
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Frontiers Media S.A.
2022-09-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.949565/full |
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| author | Lijuan Huang Lijuan Huang Jianlin Guo Yan Xie Yunyu Zhou Xiaofei Wu Hui Li Yun Peng Ningdong Li Ningdong Li Ningdong Li Ningdong Li |
| author_facet | Lijuan Huang Lijuan Huang Jianlin Guo Yan Xie Yunyu Zhou Xiaofei Wu Hui Li Yun Peng Ningdong Li Ningdong Li Ningdong Li Ningdong Li |
| author_sort | Lijuan Huang |
| collection | DOAJ |
| description | BackgroundHorizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder mainly involved in ocular movement and spinal development. It is caused by a roundabout guidance receptor 3 (ROBO3) gene mutation. This study aimed to describe the clinical features of six patients with HGPPS and investigate the corresponding ROBO3 gene mutations.MethodsPatients underwent detailed clinical and imaging examinations. Whole-exome sequencing was performed to detect nucleotide variations in the disease-causing genes of HGPPS.ResultsSix pathogenic variants were detected in the ROBO3 gene from six patients with HGPPS, including two novel compound heterozygous mutations, c.1447C > T (p.R483X) and c.2462G > C (p.R821P); c.1033G > C (p.V345L) and c.3287G > T (p.C1096F); a novel homozygous indel mutation, c.565dupC (p.R191Pfs*61); and a known missense mutation, c.416G > T (p.G139V). Patients with HGPPS had horizontal conjugated eye movement defects and scoliosis with variable degrees, as well as flattened pontine tegmentum and uncrossed corticospinal tracts on magnetic resonance imaging.ConclusionOur genetic findings will expand the spectrum of ROBO3 mutations and help inform future research on the molecular mechanism of HGPPS. |
| first_indexed | 2024-04-12T18:58:02Z |
| format | Article |
| id | doaj.art-be34b6fe2b274337ac5106a705600bf9 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-12T18:58:02Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-be34b6fe2b274337ac5106a705600bf92022-12-22T03:20:15ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602022-09-011010.3389/fped.2022.949565949565Clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosisLijuan Huang0Lijuan Huang1Jianlin Guo2Yan Xie3Yunyu Zhou4Xiaofei Wu5Hui Li6Yun Peng7Ningdong Li8Ningdong Li9Ningdong Li10Ningdong Li11Department of Ophthalmology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, ChinaDepartment of Ophthalmology, Beijing Children’s Hospital, Capital Medical University, Beijing, ChinaDepartment of Radiology, Beijing Children’s Hospital, Capital Medical University, Beijing, ChinaDepartment of Ophthalmology, Beijing Children’s Hospital, Capital Medical University, Beijing, ChinaDepartment of Ophthalmology, Beijing Children’s Hospital, Capital Medical University, Beijing, ChinaDepartment of Ophthalmology, Beijing Children’s Hospital, Capital Medical University, Beijing, ChinaDepartment of Ophthalmology, Changchun Children’s Hospital, Changchun, ChinaDepartment of Radiology, Beijing Children’s Hospital, Capital Medical University, Beijing, ChinaDepartment of Ophthalmology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, ChinaDepartment of Ophthalmology, Beijing Children’s Hospital, Capital Medical University, Beijing, ChinaKey Laboratory of Major Diseases in Children, Ministry of Education, Beijing, ChinaDepartment of Ophthalmology, Children’s Hospital, Capital Institute of Pediatrics, Beijing, ChinaBackgroundHorizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder mainly involved in ocular movement and spinal development. It is caused by a roundabout guidance receptor 3 (ROBO3) gene mutation. This study aimed to describe the clinical features of six patients with HGPPS and investigate the corresponding ROBO3 gene mutations.MethodsPatients underwent detailed clinical and imaging examinations. Whole-exome sequencing was performed to detect nucleotide variations in the disease-causing genes of HGPPS.ResultsSix pathogenic variants were detected in the ROBO3 gene from six patients with HGPPS, including two novel compound heterozygous mutations, c.1447C > T (p.R483X) and c.2462G > C (p.R821P); c.1033G > C (p.V345L) and c.3287G > T (p.C1096F); a novel homozygous indel mutation, c.565dupC (p.R191Pfs*61); and a known missense mutation, c.416G > T (p.G139V). Patients with HGPPS had horizontal conjugated eye movement defects and scoliosis with variable degrees, as well as flattened pontine tegmentum and uncrossed corticospinal tracts on magnetic resonance imaging.ConclusionOur genetic findings will expand the spectrum of ROBO3 mutations and help inform future research on the molecular mechanism of HGPPS.https://www.frontiersin.org/articles/10.3389/fped.2022.949565/fullHGPPSROBO3scoliosismutationDTI |
| spellingShingle | Lijuan Huang Lijuan Huang Jianlin Guo Yan Xie Yunyu Zhou Xiaofei Wu Hui Li Yun Peng Ningdong Li Ningdong Li Ningdong Li Ningdong Li Clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosis Frontiers in Pediatrics HGPPS ROBO3 scoliosis mutation DTI |
| title | Clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosis |
| title_full | Clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosis |
| title_fullStr | Clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosis |
| title_full_unstemmed | Clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosis |
| title_short | Clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosis |
| title_sort | clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosis |
| topic | HGPPS ROBO3 scoliosis mutation DTI |
| url | https://www.frontiersin.org/articles/10.3389/fped.2022.949565/full |
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