title: Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome:  possibility of distant parental consanguinity.
abstract: Bernard-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.423C > A) 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.
authors.affiliation: American University of Beirut Medical Center, Lebanon.
authors.forename: Rami A
authors.initials: RA
authors.lastname: Mahfouz
authors.forename: Hanno J
authors.initials: HJ
authors.lastname: Bolz
authors.forename: Zaher K
authors.initials: ZK
authors.lastname: Otrock
authors.forename: Carsten
authors.initials: C
authors.lastname: Bergmann
authors.forename: Samar
authors.initials: S
authors.lastname: Muwakkit
mesh_terms: D001606:Bernard-Soulier Syndrome / Q000235:genetics*; D018389:Codon, Nonsense; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D019038:Platelet Glycoprotein GPIb-IX Complex