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SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.
Stokes, Bethany; Berger, Seth I; Hall, Beth A; Weiss, Karin; Martinez, Ariel F; Hadley, Donald W; Murdock, David R; Ramanathan, Subhadra; Clark, Robin D; Roessler, Erich; Kruszka, Paul; Muenke, Maximilian.
Afiliación
  • Stokes B; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Berger SI; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Hall BA; Minnesota Perinatal Physicians, Allina Health, Minneapolis, Minnesota, USA.
  • Weiss K; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Martinez AF; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Hadley DW; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Murdock DR; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Ramanathan S; Division of Medical Genetics, Department of Pediatrics, Loma Linda University Children's Hospital, Loma Linda, California, USA.
  • Clark RD; Division of Medical Genetics, Department of Pediatrics, Loma Linda University Children's Hospital, Loma Linda, California, USA.
  • Roessler E; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Congenit Anom (Kyoto) ; 58(1): 29-32, 2018 Jan.
Article en En | MEDLINE | ID: mdl-28670735
Holoprosencephaly (HPE) is failure of the forebrain to divide completely during embryogenesis. Incomplete penetrance has not been reported previously in SIX3 whole gene deletions, which are known to cause HPE. Both chromosomal microarray and whole exome sequencing (WES) were used to evaluate families with inherited HPE. Two families showed inherited deletions that contain SIX3 and were incompletely penetrant for HPE. Using WES, we ruled out parental mosaicism, a SIX3 hypomorph, and clinically significant variants in genes that are known to interact with SIX3 as causes of incomplete penetrance. We demonstrate the importance of molecular cascade testing in families with HPE and we answer important questions about incomplete penetrance.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Holoprosencefalia / Prosencéfalo / Eliminación de Gen / Proteínas de Homeodominio / Proteínas del Ojo / Proteínas del Tejido Nervioso Tipo de estudio: Diagnostic_studies Límite: Adult / Child, preschool / Humans / Infant / Newborn Idioma: En Revista: Congenit Anom (Kyoto) Asunto de la revista: TERATOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Holoprosencefalia / Prosencéfalo / Eliminación de Gen / Proteínas de Homeodominio / Proteínas del Ojo / Proteínas del Tejido Nervioso Tipo de estudio: Diagnostic_studies Límite: Adult / Child, preschool / Humans / Infant / Newborn Idioma: En Revista: Congenit Anom (Kyoto) Asunto de la revista: TERATOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos