Okihiro syndrome is caused by SALL4 mutations
Jürgen Kohlhase,Marielle Heinrich,Lucia Schubert,Manuela Liebers,Andreas Kispert,Franco Laccone,Peter Turnpenny,Robin M. Winter,William Reardon +8 more
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TLDR
Evidence is presented in 5 of 8 affected families that mutation at this locus results in the Okihiro syndrome phenotype, and the human SALL4 gene on chromosome 20q13-q13.2 is characterized.Abstract:
Okihiro syndrome refers to the association of forearm malformations with Duane syndrome of eye retraction. Based on the reported literature experience, clinical diagnosis of the syndrome can be elusive, owing to the variable presentation in families reported. Specifically, there is overlap of clinical features with other conditions, most notably Holt-Oram syndrome, a condition resulting from mutation of the TBX5 locus and Townes-Brocks syndrome, known to be caused by mutations in the SALL1 gene. Arising from our observation of several malformations in Okihiro syndrome patients which are also described in Townes-Brocks syndrome, we postulated that Okihiro syndrome might result from mutation of another member of the human SALL gene family. We have characterized the human SALL4 gene on chromosome 20q13.13-q13.2. Moreover, we have identified literature reports of forelimb malformations in patients with cytogenetically identifiable abnormalities of this region. We here present evidence in 5 of 8 affected families that mutation at this locus results in the Okihiro syndrome phenotype.read more
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Genetic Basis for Congenital Heart Defects: Current Knowledge A Scientific Statement From the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young
Mary Ella M Pierpont,Craig T. Basson,D. Woodrow Benson,Bruce D. Gelb,Therese M. Giglia,Elizabeth Goldmuntz,Glenn McGee,Craig Sable,Deepak Srivastava,Catherine L. Webb +9 more
TL;DR: It is anticipated that this summary will update a wide range of medical personnel about the genetic aspects of congenital heart disease and will encourage an interdisciplinary approach to the child and adult with congenitals heart disease.
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The developmental genetics of congenital heart disease
TL;DR: Recent studies have uncovered the genetic basis for some common forms of the disease and provide new insight into how the heart develops and how dysregulation of heart development leads to disease.
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Sall4 modulates embryonic stem cell pluripotency and early embryonic development by the transcriptional regulation of Pou5f1.
Jinqiu Zhang,Wai Leong Tam,Wai Leong Tam,Guo Qing Tong,Qiang Wu,Hsiao-Yun Chan,Boon Seng Soh,Yuefei Lou,Jianchang Yang,Yupo Ma,Li Chai,Huck-Hui Ng,Huck-Hui Ng,Thomas Lufkin,Thomas Lufkin,Paul Robson,Paul Robson,Bing Lim,Bing Lim +18 more
TL;DR: It is demonstrated that Sall4 is a transcriptional activator of Pou5f1 and has a critical role in the maintenance of ES cell pluripotency by modulating Oct4 expression, and indicates that SAll4 is important for early embryonic cell-fate decisions.
Journal ArticleDOI
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.
Mary Ella M Pierpont,Martina Brueckner,Wendy K. Chung,Vidu Garg,Ronald V. Lacro,Amy L. McGuire,Seema Mital,James R. Priest,William T. Pu,Amy E. Roberts,Stephanie M. Ware,Bruce D. Gelb,Mark W. Russell +12 more
TL;DR: This review provides an updated summary of the state of the authors' knowledge of the genetic contributions to the pathogenesis of congenital heart disease and recent advances in the understanding of copy number variants, syndromes, RASopathies, and heterotaxy/ciliopathies.
Journal ArticleDOI
Sall4 interacts with Nanog and co-occupies Nanog genomic sites in embryonic stem cells.
Qiang Wu,Xi Chen,Xi Chen,Jinqiu Zhang,Yuin-Han Loh,Yuin-Han Loh,Teck-Yew Low,Weiwei Zhang,Weiwei Zhang,Wensheng Zhang,Siu Kwan Sze,Siu Kwan Sze,Bing Lim,Huck-Hui Ng,Huck-Hui Ng +14 more
TL;DR: It is suggested that Sall4 and Nanog form a regulatory circuit similar to that of Oct4 and Sox2, which encode for key transcription factors in ES cells by cooperating with Nanog.
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