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

Sleiman, Patrick M A; March, Michael; Nguyen, Kenny; Tian, Lifeng; Pellegrino, Renata; Hou, Cuiping; Dridi, Walid; Sager, Mohamed; Housawi, Yousef H; Hakonarson, Hakon

Sleiman, Patrick M A; March, Michael; Nguyen, Kenny; Tian, Lifeng; Pellegrino, Renata; Hou, Cuiping; Dridi, Walid; Sager, Mohamed; Housawi, Yousef H; Hakonarson, Hakon.

Afiliación

Sleiman PMA; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
March M; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, 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; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
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; Departments of Pediatrics, Pediatric Oncology, Pathology and Laboratory Medicine and Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia.

Hum Mutat ; 38(5): 507-510, 2017 05.

Article en En | MEDLINE | ID: mdl-28150392

ABSTRACT

ABSTRACT

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.

Asunto(s)

Agenesia del Cuerpo Calloso/diagnóstico; Agenesia del Cuerpo Calloso/genética; Genotipo; Trastornos del Crecimiento/diagnóstico; Trastornos del Crecimiento/genética; Cinesinas/genética; Mutación; Fenotipo; Síndrome de Pierre Robin/diagnóstico; Síndrome de Pierre Robin/genética; Trombocitopenia/congénito; Alelos; Preescolar; Análisis Mutacional de ADN; Facies; Femenino; Frecuencia de los Genes; Estudios de Asociación Genética; Humanos; Cinesinas/metabolismo; Linaje; Arabia Saudita; Trombocitopenia/diagnóstico; Trombocitopenia/genética

Palabras clave

Braddock-Carey syndrome; KIF15; Pierre-Robin sequence; thrombocytopenia

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenotipo / Síndrome de Pierre Robin / Trombocitopenia / Cinesinas / Agenesia del Cuerpo Calloso / Genotipo / Trastornos del Crecimiento / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans País/Región como asunto: Asia Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article

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