3 research outputs found
Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: Possibility of distant parental consanguinity
No full textBernard-Soulier syndrome (BSS) is a rare autosomal recessive disorder characterized by a prolonged skin-bleeding time and thrombocytopenia with giant platelets. The hallmark of BSS is an abnormal platelet attachment to the vessel wall due to reduced or abnormal glycoprotein Ib-IX-V complex. We present a case of BSS in a 14-month-old boy caused by a novel genetic mutation. The patient has the typical clinical findings of BSS, but he was misdiagnosed for a long period. Evaluation of the peripheral blood smear revealed giant platelets and genetic testing confirmed the diagnosis of BSS. The child was found to be homozygous for a nonsense mutation (c.423CA) in the glycoprotein Ibβ (GPIbβ) gene. Knowing that we are dealing with a very rare syndrome, the detected mutation in our patient was homozygous. Although the parents were nonconsanguineous, we believe that they were related in a distant parental connection, which the parents and their family were not aware of. © 2012 Wolters Kluwer Health | Lippincott Williams and Wilkins.Bowers MJ, 2006, BLOOD COAGUL FIBRIN, V17, P409, DOI 10.1097-01.mbc.0000233372.33852.12; DELASALLE C, 1995, NOUV REV FR HEMATOL, V37, P215; Hillmann A, 2002, THROMB HAEMOSTASIS, V88, P1026; Kunishima S, 2006, EUR J HAEMATOL, V76, P348, DOI 10.1111-j.1600-0609.2005.00612.x; Kunishima S, 2002, INT J HEMATOL, V76, P319, DOI 10.1007-BF02982690; Lanza F, 2006, ORPHANET J RARE DIS, V1, DOI 10.1186-1750-1172-1-46; LOPEZ JA, 1992, J BIOL CHEM, V267, P12851; Lopez JA, 1998, BLOOD, V91, P4397; Pham A, 2007, ARCH PATHOL LAB MED, V131, P1834; Poujol CR, 2002, EXP HEMATOL, V30, P352, DOI 10.1016-S0301-472X(02)00774-9; Rand ML, 2010, AM J HEMATOL, V85, P584, DOI 10.1002-ajh.21768; Sachs UJH, 2003, BRIT J HAEMATOL, V123, P127, DOI 10.1046-j.1365-2141.2003.04554.x; Sandrock K, 2010, TRANSFUS MED HEMOTH, V37, P278, DOI 10.1159-000320255; Savoia A, 2011, HAEMATOL-HEMATOL J, V96, P417, DOI 10.3324-haematol.2010.032631; Strassel C, 2006, J THROMB HAEMOST, V4, P217, DOI 10.1111-j.1538-7836.2005.01654.x; Sumitha E, 2011, J THROMB HAEMOST, V9, P1590, DOI 10.1111-j.1538-7836.2011.04417.x11
