Griscelli syndrome type 2: a novel mutation in gene with different clinical features in 2 siblings: a diagnostic conundrum
Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The el...
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| Format: | Article |
| Language: | English |
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Korean Pediatric Society
2014-02-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-57-91.pdf |
| _version_ | 1819033474354380800 |
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| author | Kirtisudha Mishra Shilpy Singla Suvasini Sharma Renu Saxena Vineeta Vijay Batra |
| author_facet | Kirtisudha Mishra Shilpy Singla Suvasini Sharma Renu Saxena Vineeta Vijay Batra |
| author_sort | Kirtisudha Mishra |
| collection | DOAJ |
| description | Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with fever, pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentation was a common feature between the brothers, genetic analysis for Griscelli syndrome was performed. As the elder sibling had died, mutation analysis was only performed on the younger sibling, which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing a single-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features of GS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, association with erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation. |
| first_indexed | 2024-12-21T07:18:25Z |
| format | Article |
| id | doaj.art-f62c99f16aa6445ab17f7954e8161e65 |
| institution | Directory Open Access Journal |
| issn | 1738-1061 2092-7258 |
| language | English |
| last_indexed | 2024-12-21T07:18:25Z |
| publishDate | 2014-02-01 |
| publisher | Korean Pediatric Society |
| record_format | Article |
| series | Korean Journal of Pediatrics |
| spelling | doaj.art-f62c99f16aa6445ab17f7954e8161e652022-12-21T19:11:50ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582014-02-01572919510.3345/kjp.2014.57.2.912013600025Griscelli syndrome type 2: a novel mutation in gene with different clinical features in 2 siblings: a diagnostic conundrumKirtisudha Mishra0Shilpy Singla1Suvasini Sharma2Renu Saxena3Vineeta Vijay Batra4Department of Pediatrics, Kalawati Saran Children's Hospital, Lady Hardinge Medical College, New Delhi, India.Department of Pediatrics, Kalawati Saran Children's Hospital, Lady Hardinge Medical College, New Delhi, India.Department of Pediatrics, Kalawati Saran Children's Hospital, Lady Hardinge Medical College, New Delhi, India.Department of Molecular Genetics, Sir Ganga Ram Hospital, New Delhi, India.Department of Pathology, G. B. Pant Hospital, New Delhi, India.Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with fever, pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentation was a common feature between the brothers, genetic analysis for Griscelli syndrome was performed. As the elder sibling had died, mutation analysis was only performed on the younger sibling, which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing a single-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features of GS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, association with erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation.http://kjp.or.kr/upload/pdf/kjped-57-91.pdfGriscelli syndrome type 2Neurological disorderHemophagocytic lymphohistiocytosisErythema nodosum |
| spellingShingle | Kirtisudha Mishra Shilpy Singla Suvasini Sharma Renu Saxena Vineeta Vijay Batra Griscelli syndrome type 2: a novel mutation in gene with different clinical features in 2 siblings: a diagnostic conundrum Korean Journal of Pediatrics Griscelli syndrome type 2 Neurological disorder Hemophagocytic lymphohistiocytosis Erythema nodosum |
| title | Griscelli syndrome type 2: a novel mutation in gene with different clinical features in 2 siblings: a diagnostic conundrum |
| title_full | Griscelli syndrome type 2: a novel mutation in gene with different clinical features in 2 siblings: a diagnostic conundrum |
| title_fullStr | Griscelli syndrome type 2: a novel mutation in gene with different clinical features in 2 siblings: a diagnostic conundrum |
| title_full_unstemmed | Griscelli syndrome type 2: a novel mutation in gene with different clinical features in 2 siblings: a diagnostic conundrum |
| title_short | Griscelli syndrome type 2: a novel mutation in gene with different clinical features in 2 siblings: a diagnostic conundrum |
| title_sort | griscelli syndrome type 2 a novel mutation in gene with different clinical features in 2 siblings a diagnostic conundrum |
| topic | Griscelli syndrome type 2 Neurological disorder Hemophagocytic lymphohistiocytosis Erythema nodosum |
| url | http://kjp.or.kr/upload/pdf/kjped-57-91.pdf |
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