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J Hum Genet. 2009 Jun;54(6):331-4. doi: 10.1038/jhg.2009.34. Epub 2009 Apr 17.

TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations.

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1
Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin, Münster, Germany. johannes.haeberle@kispi.uzh.ch

Abstract

Transcobalamin II (TC II) is a plasma transport protein for cobalamin. TC II deficiency can lead to infant megaloblastic anemia, failure to thrive and to neurological complications. This report describes the genetic work-up of three patients who presented in early infancy. Initially, genomic investigations did not reveal the definite genetic diagnosis in the two index patients. However, analysis of cDNA from skin fibroblasts revealed a homozygous deletion of exon 7 of the TC II gene caused by the mutation c.940+303_c.1106+746del2152insCTGG (r.941_1105del; p.fs326X) in one patient. The other patients were siblings and both affected by an insertion of 87 bp on the transcript which was caused by the homozygous mutation c.580+624A>T (r.580ins87; p.fs209X). Additional experiments showed that cDNA from lymphocytes could have been used also for the genetic work-up. This report shows that the use of cDNA from skin fibroblasts or peripheral lymphocytes facilitates genetic investigations of suspected TC II deficiency and helps to avoid false-negative DNA analysis.

PMID:
19373259
DOI:
10.1038/jhg.2009.34
[Indexed for MEDLINE]
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