title: 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.
authors.affiliation: Abteilung fuer Neuroanatomie, Institut fuer Anatomie, Bochum, Germany.
authors.forename: Britta
authors.initials: B
authors.lastname: Fricke
authors.forename: Helen G
authors.initials: HG
authors.lastname: Jarvis
authors.forename: Cecil D L
authors.initials: CD
authors.lastname: Reid
authors.forename: Patricia
authors.initials: P
authors.lastname: Aguilar-Martinez
authors.forename: A
authors.initials: A
authors.lastname: Robert
authors.forename: P
authors.initials: P
authors.lastname: Quittet
authors.forename: Margaret
authors.initials: M
authors.lastname: Chetty
authors.forename: Arnold
authors.initials: A
authors.lastname: Pizzey
authors.forename: Thérèse
authors.initials: T
authors.lastname: Cynober
authors.forename: William F
authors.initials: WF
authors.lastname: Lande
authors.forename: William C
authors.initials: WC
authors.lastname: Mentzer
authors.forename: Monika
authors.initials: M
authors.lastname: Düring
authors.forename: Stuart
authors.initials: S
authors.lastname: Winter
authors.forename: Jean
authors.initials: J
authors.lastname: Delaunay
authors.forename: Gordon W
authors.initials: GW
authors.lastname: Stewart
mesh_terms: D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000150:complications*; D001798:Blood Proteins / Q000172:deficiency*; D015153:Blotting, Western / Q000379:methods; D004910:Erythrocyte Membrane / Q000737:chemistry; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency*; D010375:Pedigree; D013577:Syndrome
chemical_list: D001798:Blood Proteins; D008565:Membrane Proteins; C036860:STOM protein, human