Abstract | OBJECTIVE: METHODS: We describe the clinical picture of 7 patients from 3 sibships, belong to one large inbred family who presented with megaloblastic anemia during infancy. The mode of inheritance follows an autosomal recessive pattern and the syndrome was completely reversed by parentral vitamin B12 therapy. The ascertainment of the family was carried out in 1998 in the Princess Rhama Children's Hospital, which is affiliated with Jordan University of Science and Technology, Jordan. We performed linkage analysis in this family for genes or regions involved in the above mentioned disorders. RESULTS: The genes implicated in the etiology of the previously mentioned disorders were excluded from being responsible for the disorder in this family. CONCLUSION: The exclusion of the involvement of GIF, MGA1, TCN1 and TCN2 in this family suggests that another gene and its product, involved in cobalamin absorption or transport, remains to be identified. A genome-wide search of the gene implicated in this family may give some insight on that gene, and its function.
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Authors | Jamil R Al-Alami, Marwan K Tayeh, Mahmoud Y Al-Sheyyab, Hatem I El-Shanti |
Journal | Saudi medical journal
(Saudi Med J)
Vol. 23
Issue 10
Pg. 1251-6
(Oct 2002)
ISSN: 0379-5284 [Print] Saudi Arabia |
PMID | 12436132
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Topics |
- Anemia, Megaloblastic
(congenital, genetics)
- Female
- Genetic Linkage
- Humans
- Infant
- Male
- Pedigree
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