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Blood, 15 November 2000, Vol. 96, No. 10, pp. 3447-3451
HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY
Autosomal-dominant giant platelet syndromes: a hint of the same
genetic defect as in Fechtner syndrome owing to a similar genetic
linkage to chromosome 22q11-13
Amos Toren,
Galit Rozenfeld-Granot,
Bianca Rocca,
Charles J. Epstein,
Ninette Amariglio,
Ferdinando Laghi,
Raffaele Landolfi,
Frida Brok-Simoni,
Lena E. Carlsson,
Gideon Rechavi, and
Andreas Greinacher
From the Pediatric Hemato-Oncology Department and the
Institute of Hematology, the Chaim Sheba Medical Center, Tel-Hashomer,
Tel-Aviv, Israel; Research Center on Pathophysiology of
Heamostasis, Catholic University of Medicine, Rome, Italy;
Department of Pediatrics, University of California, San Francisco, CA;
Department of Medicine, Castrovillari Hospital, Castrovillari,
Italy; and Institut for Immunology and Transfusion Medicine,
Ernst-Moritz- Arndt-University, Greifswald, Germany.
Families with 3 different syndromes characterized by
autosomal dominant inheritance of low platelet count and giant
platelets were studied. Fechtner syndrome is an autosomal-dominant
variant of Alport syndrome manifested by nephritis, sensorineural
hearing loss, and cataract formation in addition to
macrothrombocytopenia and polymorphonuclear inclusion bodies. Sebastian
platelet syndrome is an autosomal-dominant macrothrombocytopenia
combined with neutrophil inclusions that differ from those found in
May-Hegglin syndrome or Chediak-Higashi syndrome or the Dohle bodies
described in patients with sepsis. These inclusions are, however,
similar to those described in Fechtner syndrome. Other features of
Alport syndrome, though, including deafness, cataracts, and nephritis,
are absent in Sebastian platelet syndrome. Epstein syndrome is
characterized by macrothrombocytopenia without neutrophil inclusions,
in addition to the classical Alport manifestations deafness,
cataracts, and nephritisand it is also inherited in an
autosomal-dominant mode. We mapped the disease-causing gene to the long
arm of chromosome 22 in an Italian family with Fechtner syndrome, 2 German families with the Sebastian platelet syndrome, and an American
family with the Epstein syndrome. Four markers on chromosome 22q
yielded an LOD score greater than 2.76. A maximal 2-point LOD score of
3.41 was obtained with the marker D22S683 at a recombination fraction
of 0.00. Recombination analysis placed the disease-causing gene in a
3.37-Mb interval between the markers D22S284 and D22S693. The
disease-causing gene interval in these 3 syndromes is similar to the
interval described recently in an Israeli family with a slightly
different Fechtner syndrome than the one described here. Recombination
analysis of these 3 syndromes refines the interval containing the
disease-causing gene from 5.5 Mb to 3.37 Mb. The clinical likeness and
the similar interval containing the disease-causing gene suggest that
the 3 different syndromes may arise from a similar genetic defect.
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