Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction.

Abstract

This report concerns congenitally Na(+)-K(+) leaky red cells of the 'hereditary stomatocytosis' class. Three new isolated cases and one new pedigree are described, and one previously reported case is expanded. In all cases, Western blotting of red cell membranes revealed a deficiency in the 32 kDa membrane protein, stomatin. All showed pronounced cation leaks at 37 degrees C with markedly abnormal intracellular Na(+) and K(+) concentrations, like all other such stomatin-deficient cases. Consistent with recent findings in two previously described British pedigrees, immunocytochemistry demonstrated that the deficiency of stomatin was not complete. On typical blood films, some red cells showed positive stomatin immunoreactivity, while most were negative, although in one case only a minority were negative. All platelets and neutrophils were stomatin positive. The cases differed markedly between themselves with regard to the temperature dependence of the passive leak to K(+). Three showed a simple monotonic temperature dependence, while two showed a minimum at around 20-25 degrees C, such that the cells were extremely leaky at 0 degrees C, giving the phenotype known as 'cryohydrocytosis'. These patients are the only two known cases of stomatin-deficient cryohydrocytosis. Both showed a congenital syndrome of mental retardation, seizures, cataracts and massive hepatosplenomegaly, probably defining a new haemato-neurological syndrome.

Statistics

0102030'06'07'08'09'10'11'12'13'14'15'16'17
Citations per Year

93 Citations

Semantic Scholar estimates that this publication has 93 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Fricke2004FourNC, title={Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction.}, author={Britta Fricke and Helen G Jarvis and Cecil D L Reid and Patricia Aguilar-Martinez and Alain Robert and Philippe Quittet and Margaret C Chetty and Arnold R. Pizzey and Th{\'e}r{\`e}se Cynober and William F Lande and William C Mentzer and Monika U Von Duering and Stuart S. Winter and Jean Delaunay and Gordon W. Stewart}, journal={British journal of haematology}, year={2004}, volume={125 6}, pages={796-803} }