A novel LYST mutation causing Chédiak Higashi syndrome in a South African child
Chédiak Higashi syndrome (CHS) is a disorder of immune dysregulation characterised by oculocutaneous albinism. This report describes a 10-week old female with clinical and laboratory features of CHS. Genetic analysis confirmed a novel mutation in the LYST gene, predicted to skip exon 42 of the gene...
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Elsevier
2019-08-01
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| Series: | Pediatric Hematology Oncology Journal |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2468124519302360 |
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doaj-dc385cd6be2e48818c59fcd1e787c4862020-11-25T00:09:23ZengElsevierPediatric Hematology Oncology Journal2468-12452019-08-01424446A novel LYST mutation causing Chédiak Higashi syndrome in a South African childJoycelyn Assimeng Dame0Lee-Ann Phillips1Nico de Villiers2Komala Pillay3Carol Hlela4Brian Eley5Paediatric Infectious Diseases Unit, Red Cross War Memorial Children's Hospital, The Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South Africa; Corresponding author.National Health Laboratory Service Haematology Laboratory, Red Cross War Memorial Children's Hospital, The Division of Haematology, Department of Pathology, University of Cape Town, Cape Town, South AfricaNext Generation Ampath Genetics, South AfricaNational Health Laboratory Services and University of Cape Town, Red Cross Memorial Children's Hospital, Cape Town, South AfricaPaediatric Dermatology Unit, Red Cross War Memorial Children's Hospital, The Department of Dermatology, University of Cape Town, Cape Town, South AfricaPaediatric Infectious Diseases Unit, Red Cross War Memorial Children's Hospital, The Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South AfricaChédiak Higashi syndrome (CHS) is a disorder of immune dysregulation characterised by oculocutaneous albinism. This report describes a 10-week old female with clinical and laboratory features of CHS. Genetic analysis confirmed a novel mutation in the LYST gene, predicted to skip exon 42 of the gene and result in a truncated protein product. To the best of our knowledge there is no previous complete description of CHS in a patient in South Africa. Keywords: Chediak higashi syndrome, Novel LYST mutation, Accelerated phase, South african infanthttp://www.sciencedirect.com/science/article/pii/S2468124519302360 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Joycelyn Assimeng Dame Lee-Ann Phillips Nico de Villiers Komala Pillay Carol Hlela Brian Eley |
| spellingShingle |
Joycelyn Assimeng Dame Lee-Ann Phillips Nico de Villiers Komala Pillay Carol Hlela Brian Eley A novel LYST mutation causing Chédiak Higashi syndrome in a South African child Pediatric Hematology Oncology Journal |
| author_facet |
Joycelyn Assimeng Dame Lee-Ann Phillips Nico de Villiers Komala Pillay Carol Hlela Brian Eley |
| author_sort |
Joycelyn Assimeng Dame |
| title |
A novel LYST mutation causing Chédiak Higashi syndrome in a South African child |
| title_short |
A novel LYST mutation causing Chédiak Higashi syndrome in a South African child |
| title_full |
A novel LYST mutation causing Chédiak Higashi syndrome in a South African child |
| title_fullStr |
A novel LYST mutation causing Chédiak Higashi syndrome in a South African child |
| title_full_unstemmed |
A novel LYST mutation causing Chédiak Higashi syndrome in a South African child |
| title_sort |
novel lyst mutation causing chédiak higashi syndrome in a south african child |
| publisher |
Elsevier |
| series |
Pediatric Hematology Oncology Journal |
| issn |
2468-1245 |
| publishDate |
2019-08-01 |
| description |
Chédiak Higashi syndrome (CHS) is a disorder of immune dysregulation characterised by oculocutaneous albinism. This report describes a 10-week old female with clinical and laboratory features of CHS. Genetic analysis confirmed a novel mutation in the LYST gene, predicted to skip exon 42 of the gene and result in a truncated protein product. To the best of our knowledge there is no previous complete description of CHS in a patient in South Africa. Keywords: Chediak higashi syndrome, Novel LYST mutation, Accelerated phase, South african infant |
| url |
http://www.sciencedirect.com/science/article/pii/S2468124519302360 |
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