Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.

Autor: Sleiman PMA; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., March M; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Nguyen K; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Tian L; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Pellegrino R; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Hou C; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Dridi W; Departments of Pediatrics, Pediatric Oncology, Pathology and Laboratory Medicine and Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia., Sager M; Departments of Pediatrics, Pediatric Oncology, Pathology and Laboratory Medicine and Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia., Housawi YH; Departments of Pediatrics, Pediatric Oncology, Pathology and Laboratory Medicine and Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia., Hakonarson H; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Jazyk: angličtina
Zdroj: Human mutation [Hum Mutat] 2017 May; Vol. 38 (5), pp. 507-510. Date of Electronic Publication: 2017 Mar 10.
DOI: 10.1002/humu.23188
Abstrakt: Braddock-Carey Syndrome (BCS) is characterized by microcephaly, congenital thrombocytopenia, Pierre-Robin sequence (PRS), and agenesis of the corpus callosum. BCS has been shown to be caused by a 21q22.11 microdeletion that encompasses multiple genes. Here, we report a BCS genocopy characterized by congenital thrombocytopenia and PRS that is caused by a loss-of-function mutation in KIF15 in a consanguineous Saudi Arabian family. Mutations of mitotic kinesins are a well-established cause of microcephaly. To our knowledge, KIF15 is the first kinesin to be associated with congenital thrombocytopenia.
(© 2017 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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