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Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.
Barber, John C K; Rosenfeld, Jill A; Graham, John M; Kramer, Nancy; Lachlan, Katherine L; Bateman, Mark S; Collinson, Morag N; Stadheim, Barbro Fossøy; Turner, Claire L S; Gauthier, Jacqueline N; Reimschisel, Tyler E; Qureshi, Athar M; Dabir, Tabib A; Humphreys, Mervyn W; Marble, Michael; Huang, Taosheng; Beal, Sarah J; Massiah, Joanne; Taylor, Emma-Jane; Wynn, Sarah L.
Afiliación
  • Barber JC; Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK.
  • Rosenfeld JA; Signature Genomic Laboratories, PerkinElmer Inc., Spokane, Washington.
  • Graham JM; Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California.
  • Kramer N; Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California.
  • Lachlan KL; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Bateman MS; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
  • Collinson MN; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
  • Stadheim BF; Department of Medical Genetics, Rikshospitalet, Oslo University Hospital, Oslo, Norway.
  • Turner CL; Department of Clinical Genetics, Royal Devon and Exeter Hospital (Heavitree), Exeter, UK.
  • Gauthier JN; Division of Developmental Medicine and the Centre for Child Development, Vanderbilt University Medical Center, Nashville, Tennessee.
  • Reimschisel TE; Division of Developmental Medicine and the Centre for Child Development, Vanderbilt University Medical Center, Nashville, Tennessee.
  • Qureshi AM; Center for Pediatric and Congenital Heart Disease, The Cleveland Clinic, Cleveland, Ohio.
  • Dabir TA; Medical Genetics Department, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast, Northern Ireland.
  • Humphreys MW; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast, Northern Ireland.
  • Marble M; Children's Hospital of New Orleans, New Orleans, Louisiana.
  • Huang T; School of Medicine, University of California, Irvine, California.
  • Beal SJ; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
  • Massiah J; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
  • Taylor EJ; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
  • Wynn SL; Unique, Caterham, UK.
Am J Med Genet A ; 167A(9): 2052-64, 2015 Sep.
Article en En | MEDLINE | ID: mdl-26097203
The 8p23.1 duplication syndrome (8p23.1 DS) is a recurrent genomic condition with an estimated prevalence of 1 in 58,000. The core 3.68 Mb duplication contains 32 genes of which five are currently candidates for the phenotypic features. Here we describe four patients and five families with eight microduplications of 8p23.1 ranging from 187 to 1082 kb in size and one atypical duplication of 4 Mb. These indicate that a minimal region of overlap (MRO) in medial 8p23.1 can give rise to features of 8p23.1 DS including developmental delay, dysmorphism, macrocephaly and otitis media, but not congenital heart disease (CHD). This MRO spans 776 kb (chr8:10,167,881-10,943,836 hg19) and contains SOX7 and seven of the other 32 core 8p23.1 DS genes. In centromeric 8p23.1, microduplications including GATA4 can give rise to non-syndromic CHD but the clinical significance of two smaller centromeric microduplications without GATA4 was uncertain due to severe neurological profiles not usually found in 8p23.1 DS. The clinical significance of three further 8p23.1 microduplications was uncertain due to additional genetic factors without which the probands might not have come to medical attention. Variable expressivity was indicated by the almost entirely unaffected parents in all five families and the mildly affected sibling in one. Intronic interruptions of six genes by microduplication breakpoint intervals had no apparent additional clinical consequences. Our results suggest that 8p23.1 DS is an oligogenetic condition largely caused by the duplication and interactions of the SOX7 and GATA4 transcription factors.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cromosomas Humanos Par 8 / Discapacidades del Desarrollo / Duplicación de Gen Tipo de estudio: Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cromosomas Humanos Par 8 / Discapacidades del Desarrollo / Duplicación de Gen Tipo de estudio: Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article Pais de publicación: Estados Unidos