Novel Mutation in Wolcott–Rallison Syndrome with Variable Expression in Two Omani Siblings
Wolcott-Rallison syndrome (WRS) is an autosomal recessive disease, characterized by neonatal or early-onset non-autoimmune insulin-dependent diabetes. WRS, although rare, is recognized to be the most frequent cause of neonatal-onset diabetes. The majority of reported patients are from consanguineous...
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| Format: | Article |
| Language: | English |
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Oman Medical Specialty Board
2015-03-01
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| Series: | Oman Medical Journal |
| Subjects: | |
| Online Access: | http://www.omjournal.org/fultext_PDF.aspx?DetailsID=634&type=fultext |
| _version_ | 1819259390643929088 |
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| author | Siham Al-Sinani Saif Al-Yaarubi SW Sharef Fathyia Al-Murshedi Watfa Al-Maamari |
| author_facet | Siham Al-Sinani Saif Al-Yaarubi SW Sharef Fathyia Al-Murshedi Watfa Al-Maamari |
| author_sort | Siham Al-Sinani |
| collection | DOAJ |
| description | Wolcott-Rallison syndrome (WRS) is an autosomal recessive disease, characterized by neonatal or early-onset non-autoimmune insulin-dependent diabetes. WRS, although rare, is recognized to be the most frequent cause of neonatal-onset diabetes. The majority of reported patients are from consanguineous families. Several mutations with variable expression of the syndrome are reported. Here we describe a six-year-old boy with WRS who was evaluated at Sultan Qaboos University Hospital and was found to have a novel homozygous nonsense mutation in the EIF2AK3 gene. His younger sister also had WRS but with milder expression. The mutation exhibited different clinical characteristics in the siblings proving that WRS patients phenotypic variability correlates poorly to genotype. This is the first case report of two Omani children with WRS and a report of a novel mutation. |
| first_indexed | 2024-12-23T19:09:15Z |
| format | Article |
| id | doaj.art-99228da7c8564ce2aa5646c6b8e47f01 |
| institution | Directory Open Access Journal |
| issn | 1999-768X 2070-5204 |
| language | English |
| last_indexed | 2024-12-23T19:09:15Z |
| publishDate | 2015-03-01 |
| publisher | Oman Medical Specialty Board |
| record_format | Article |
| series | Oman Medical Journal |
| spelling | doaj.art-99228da7c8564ce2aa5646c6b8e47f012022-12-21T17:34:30ZengOman Medical Specialty BoardOman Medical Journal1999-768X2070-52042015-03-0130213814110.5001/omj.2015.29Novel Mutation in Wolcott–Rallison Syndrome with Variable Expression in Two Omani SiblingsSiham Al-Sinani0Saif Al-Yaarubi1SW Sharef2Fathyia Al-Murshedi3Watfa Al-Maamari4Department of Child Health, Sultan Qaboos University Hospital, Muscat, OmanDepartment of Child Health, Sultan Qaboos University Hospital, Muscat, OmanDepartment of Child Health, Sultan Qaboos University Hospital, Muscat, OmanDepartment of Genetics, Sultan Qaboos University, Muscat, Oman.Department of Child Health, Sultan Qaboos University Hospital, Muscat, OmanWolcott-Rallison syndrome (WRS) is an autosomal recessive disease, characterized by neonatal or early-onset non-autoimmune insulin-dependent diabetes. WRS, although rare, is recognized to be the most frequent cause of neonatal-onset diabetes. The majority of reported patients are from consanguineous families. Several mutations with variable expression of the syndrome are reported. Here we describe a six-year-old boy with WRS who was evaluated at Sultan Qaboos University Hospital and was found to have a novel homozygous nonsense mutation in the EIF2AK3 gene. His younger sister also had WRS but with milder expression. The mutation exhibited different clinical characteristics in the siblings proving that WRS patients phenotypic variability correlates poorly to genotype. This is the first case report of two Omani children with WRS and a report of a novel mutation.http://www.omjournal.org/fultext_PDF.aspx?DetailsID=634&type=fultextWolcott-Rallison syndromePermanent Neonatal Diabetes Mellitus; OsteochondrodysplasiaPermanent Neonatal Diabetes MellitusOsteochondrodysplasia |
| spellingShingle | Siham Al-Sinani Saif Al-Yaarubi SW Sharef Fathyia Al-Murshedi Watfa Al-Maamari Novel Mutation in Wolcott–Rallison Syndrome with Variable Expression in Two Omani Siblings Oman Medical Journal Wolcott-Rallison syndrome Permanent Neonatal Diabetes Mellitus; Osteochondrodysplasia Permanent Neonatal Diabetes Mellitus Osteochondrodysplasia |
| title | Novel Mutation in Wolcott–Rallison Syndrome with Variable Expression in Two Omani Siblings |
| title_full | Novel Mutation in Wolcott–Rallison Syndrome with Variable Expression in Two Omani Siblings |
| title_fullStr | Novel Mutation in Wolcott–Rallison Syndrome with Variable Expression in Two Omani Siblings |
| title_full_unstemmed | Novel Mutation in Wolcott–Rallison Syndrome with Variable Expression in Two Omani Siblings |
| title_short | Novel Mutation in Wolcott–Rallison Syndrome with Variable Expression in Two Omani Siblings |
| title_sort | novel mutation in wolcott rallison syndrome with variable expression in two omani siblings |
| topic | Wolcott-Rallison syndrome Permanent Neonatal Diabetes Mellitus; Osteochondrodysplasia Permanent Neonatal Diabetes Mellitus Osteochondrodysplasia |
| url | http://www.omjournal.org/fultext_PDF.aspx?DetailsID=634&type=fultext |
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