The molecular genetics of holoprosencephaly

Roessler, Erich; Muenke, Maximilian

doi:10.1002/ajmg.c.30236

Cited by 230 publications

(204 citation statements)

References 116 publications

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“…21 Loss of Shh signaling results in holoprosencephaly, which consists of neural tube defects, loss of midline craniofacial structures, and neural crest-specific cell death. 78 Work in chicken, mouse, and zebrafish has shown that ethanol exposure reduces Shh signaling leading to increased CNCC death, as well as disrupted midline and eye development. 30,[79][80][81][82] These ethanol-induced phenotypes can be rescued by injection of shh mRNA.…”

Section: Zebrafish Models Of Fasdmentioning

confidence: 99%

Fishing for Fetal Alcohol Spectrum Disorders: Zebrafish as a Model for Ethanol Teratogenesis

2016

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Fetal Alcohol Spectrum Disorders (FASD) describes a wide array of ethanol-induced developmental defects, including craniofacial dysmorphology and cognitive impairments. It affects *1 in 100 children born in the United States each year. Due to the pleiotropic effects of ethanol, animal models have proven critical in characterizing the mechanisms of ethanol teratogenesis. In this review, we focus on the utility of zebrafish in characterizing ethanolinduced developmental defects. A growing number of laboratories have focused on using zebrafish to examine ethanol-induced defects in craniofacial, cardiac, ocular, and neural development, as well as cognitive and behavioral impairments. Growing evidence supports that genetic predisposition plays a role in these ethanol-induced defects, yet little is understood about these gene-ethanol interactions. With a high degree of genetic amenability, zebrafish is at the forefront of identifying and characterizing the gene-ethanol interactions that underlie FASD.

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Section: Zebrafish Models Of Fasdmentioning

confidence: 99%

Fishing for Fetal Alcohol Spectrum Disorders: Zebrafish as a Model for Ethanol Teratogenesis

2016

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“…); progenitor fields (holoprosencephaly due to mutations of SIX3, SHH, TGIF, ZIG2, PTCH1, GLI2, D1SP1, NODAL, FOXH1, etc. [see Roessler and Muenke, 2010], or secondary epimorphic fields (syndactyly of toes 2/3, rudimentary postaxial polydactyly, submucous cleft of palate, mild hypospadias, etc. ).…”

Section: Fields and Malformationsmentioning

confidence: 99%

Historical perspective on developmental concepts and terminology

Opitz

Neri

2013

American J of Med Genetics Pt A

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In their ontogeny and phylogeny all living beings are historical entities. The revolution in biology of the 18th and 19th centuries that did away with the scala naturae according to which we humans, the acme of creation, “made a little lower than the angels,” also led to the gradual realization that a humble one‐celled protist (“protoctist”), such as Entamoeba histolytica of ill repute [Margulis and Chapman, ] has the same 4‐billion‐year phylogeny as that of Homo sapiens, vivid testimony to common ancestry and the relatedness of all living beings on earth. The group of medical geneticists who assembled at the NIH, Bethesda, MD this January to address terms pertaining to human ontogeny, did so in the long tradition of Sydenham, Linnaeus, Meckel, Geoffroy St‐Hilaire père et fils, Wilhelm His and so many others before who had over the previous two centuries wrestled as earnestly as they could with concepts of “classification” and nomenclature of developmental anomalies. The prior massive need for classification per se in medical morphology has diminished over the years in favor of ever more sophisticated understanding of pathogenesis and cause through experimental biology and genetics; however, in the winter of 2013 it was still found prudent to respect terminological precedent on general terms while recognizing recent advances in developmental pathology requiring clarification and definition of special terms. Efforts along similar lines instigated by the German Society of Anatomists at their first meeting in Leipzig in 1887 culminated, after intense years of work by hundreds of experts and consultants under the goad of Wilhelm His, in the Basel Nomina Anatomica [BNA, His (1895)]. His, himself, stated prefatorily that the BNA had no legislative weight, only an evanescent consensus of many to be amended in the future as needed and indicated. Without hubris, no one before or after will do the same. The more substantial the consensus the more permanent the structure. After some 120 years the BNA is alive and flourishing. Now retitled Terminologia Anatomica, it has been amended and added to many times, is still in Latin but now with synonyms in English, the new lingua franca of science, for every anatomical, histological and embryological term. May our successors be equally effective. © 2013 Wiley Periodicals, Inc.

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“…The pathogenetic mechanism involved remains uncovered in most cases [51]. Based on distinct clinical phenotypes, we recently proved that, at least in some cases with PSIS or isolated pituitary hypoplasia, HPE-related gene mutations are causative factors [52]. Holoprocencephaly (HPE) is the most common developmental brain anomaly in humans and is caused by various genetic and environmental factors.…”

Section: Pituitary Stalk Interruption Syndrome (Psis) or Isolated Pitmentioning

confidence: 99%

“…Holoprocencephaly (HPE) is the most common developmental brain anomaly in humans and is caused by various genetic and environmental factors. The most commonly encountered HPE-related molecular defects are in the SHH, ZIC2, SIX3 and TGIF genes, which are detected in 5-10% of HPE cases [52]. The extended spectrum of clinical manifestations even in the case of specific defects in HPErelated genes is probably a result of the synergistic effect of other coexisting genetic variants as well as environmental factors.…”

Section: Pituitary Stalk Interruption Syndrome (Psis) or Isolated Pitmentioning

confidence: 99%