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Case Reports
. 2015;2015(1):6.
doi: 10.1186/s13633-015-0002-6. Epub 2015 Apr 15.

A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia

Sophia Tahir #  1 , Lieve Gj Leijssen #  1 , Maha Sherif  1 , Carla Pereira  2 , Anabela Morais  3 , Khalid Hussain  1   4
Affiliations
Case Reports

A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia

Sophia Tahir et al. Int J Pediatr Endocrinol. 2015.

Abstract

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case of TRMA syndrome in a female patient of Portuguese descent, born to unrelated parents. The patient was found to have a novel homozygous change R397X in exon 4 of the SLC19A2 gene, leading to a premature stop codon. The patient's diabetes and anaemia showed a good response to daily thiamine doses, reducing the daily insulin dose requirement. The report further indicates that TRMA is not only limited to consanguineous or ethnically isolated families, and should be considered as a differential diagnosis for patients presenting with suggestive clinical symptoms.

Keywords: Diabetes mellitus; Megaloblastic anaemia; SLC19A2 mutation; Sensorineural deafness; TRMA.

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Figures

Figure 1
Figure 1
SLC19A2 Mutation analysis: Chromatograms showing the location of the c.1189A>T/R397X mutation in our patient, her parents and a control. The patient is homozygous (T/T) for the mutation, whilst both parents are heterozygous (A/T) carriers. The wild-type allele at same location is a homozygous (A/A) as shown in the control.
See this image and copyright information in PMC

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