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Book ; Online ; E-Book: Cassidy and Allanson's management of genetic syndromes

Allanson, Judith E. / Carey, John C. / Battaglia, Agatino / Viskochil, David H. / Cassidy, Suzanne B.

2021

Title variant	Management of genetic syndromes
Author's details	edited by John C. Carey, Agatino Battaglia, David Viskochil, Suzanne B. Cassidy
Keywords	Electronic books ; Hereditary Diseases / diagnosis ; Hereditary Diseases / therapy ; Abnormalities, Multiple / diagnosis ; Abnormalities, Multiple / therapy
Language	English
Size	1 Online-Ressource (xxxv, 1068 Seiten), Illustrationen
Edition	Fourth edition
Publisher	Wiley Blackwell
Publishing place	Hoboken, NJ
Publishing country	United States
Document type	Book ; Online ; E-Book
Remark	Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
HBZ-ID	HT020617102
ISBN	978-1-119-43264-7 ; 9781119432678 ; 1-119-43264-2 ; 1119432677
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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Article ; Online: Disorders of the ras pathway: an introduction.

Viskochil, David H

American journal of medical genetics. Part C, Seminars in medical genetics

2011 Volume 157C, Issue 2, Page(s) 79–82

MeSH term(s)	Abnormalities, Multiple/genetics ; Abnormalities, Multiple/metabolism ; Animals ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/metabolism ; Humans ; Phosphorylation ; Proto-Oncogene Proteins p21(ras)/genetics ; Proto-Oncogene Proteins p21(ras)/metabolism ; Signal Transduction/physiology
Chemical Substances	Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2)
Language	English
Publishing date	2011-05-15
Publishing country	United States
Document type	Introductory Journal Article
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.30301
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Article ; Online: Personal journeys to and in human genetics and dysmorphology.

Schwartz, Charles E / Aylsworth, Arthur S / Allanson, Judith / Battaglia, Agatino / Carey, John C / Curry, Cynthia J / Davies, Kay E / Eichler, Evan E / Graham, John M / Hall, Bryan / Hall, Judith G / Holmes, Lewis B / Hoyme, H Eugene / Hunter, Alasdair / Innis, Jeffrey / Johnson, John / Keppler-Noreuil, Kim M / Leroy, Jules G / Moore, Cynthia /

Nelson, David L / Neri, Giovanni / Opitz, John M / Picketts, David / Raymond, F Lucy / Shalev, Stavit Allon / Stevenson, Roger E / Stumpel, Connie T R M / Sutherland, Grant / Viskochil, David H / Weaver, David D / Zackai, Elaine H

American journal of medical genetics. Part A

2024 Volume 194, Issue 6, Page(s) e63514

Abstract: Genetics has become a critical component of medicine over the past five to six decades. Alongside genetics, a relatively new discipline, dysmorphology, has also begun to play an important role in providing critically important diagnoses to individuals ... ...

Abstract	Genetics has become a critical component of medicine over the past five to six decades. Alongside genetics, a relatively new discipline, dysmorphology, has also begun to play an important role in providing critically important diagnoses to individuals and families. Both have become indispensable to unraveling rare diseases. Almost every medical specialty relies on individuals experienced in these specialties to provide diagnoses for patients who present themselves to other doctors. Additionally, both specialties have become reliant on molecular geneticists to identify genes associated with human disorders. Many of the medical geneticists, dysmorphologists, and molecular geneticists traveled a circuitous route before arriving at the position they occupied. The purpose of collecting the memoirs contained in this article was to convey to the reader that many of the individuals who contributed to the advancement of genetics and dysmorphology since the late 1960s/early 1970s traveled along a journey based on many chances taken, replying to the necessities they faced along the way before finding full enjoyment in the practice of medical and human genetics or dysmorphology. Additionally, and of equal importance, all exhibited an ability to evolve with their field of expertise as human genetics became human genomics with the development of novel technologies.
MeSH term(s)	Humans ; Genetics, Medical ; History, 20th Century ; History, 21st Century ; Human Genetics
Language	English
Publishing date	2024-02-08
Publishing country	United States
Document type	Journal Article ; Historical Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63514
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Article ; Online: A likely HOXC4 predisposition variant for Chiari malformations.

Brockmeyer, Douglas L / Cheshier, Samuel H / Stevens, Jeff / Facelli, Julio C / Rowe, Kerry / Heiss, John D / Musolf, Anthony / Viskochil, David H / Allen-Brady, Kristina L / Cannon-Albright, Lisa A

Journal of neurosurgery

2022 Volume 139, Issue 1, Page(s) 266–274

Abstract: Objective: Inherited variants predisposing patients to type 1 or 1.5 Chiari malformation (CM) have been hypothesized but have proven difficult to confirm. The authors used a unique high-risk pedigree population resource and approach to identify rare ... ...

Abstract	Objective: Inherited variants predisposing patients to type 1 or 1.5 Chiari malformation (CM) have been hypothesized but have proven difficult to confirm. The authors used a unique high-risk pedigree population resource and approach to identify rare candidate variants that likely predispose individuals to CM and protein structure prediction tools to identify pathogenicity mechanisms. Methods: By using the Utah Population Database, the authors identified pedigrees with significantly increased numbers of members with CM diagnosis. From a separate DNA biorepository of 451 samples from CM patients and families, 32 CM patients belonging to 1 or more of 24 high-risk Chiari pedigrees were identified. Two high-risk pedigrees had 3 CM-affected relatives, and 22 pedigrees had 2 CM-affected relatives. To identify rare candidate predisposition gene variants, whole-exome sequence data from these 32 CM patients belonging to 24 CM-affected related pairs from high-risk pedigrees were analyzed. The I-TASSER package for protein structure prediction was used to predict the structures of both the wild-type and mutant proteins found here. Results: Sequence analysis of the 24 affected relative pairs identified 38 rare candidate Chiari predisposition gene variants that were shared by at least 1 CM-affected pair from a high-risk pedigree. The authors found a candidate variant in HOXC4 that was shared by 2 CM-affected patients in 2 independent pedigrees. All 4 of these CM cases, 2 in each pedigree, exhibited a specific craniocervical bony phenotype defined by a clivoaxial angle less than 125°. The protein structure prediction results suggested that the mutation considered here may reduce the binding affinity of HOXC4 to DNA. Conclusions: Analysis of unique and powerful Utah genetic resources allowed identification of 38 strong candidate CM predisposition gene variants. These variants should be pursued in independent populations. One of the candidates, a rare HOXC4 variant, was identified in 2 high-risk CM pedigrees, with this variant possibly predisposing patients to a Chiari phenotype with craniocervical kyphosis.
MeSH term(s)	Humans ; Genetic Predisposition to Disease/genetics ; Genotype ; Homeodomain Proteins/genetics ; Mutation ; Pedigree ; Phenotype ; Risk Factors ; Brain/abnormalities
Chemical Substances	Homeodomain Proteins ; HOXC4 protein, human
Language	English
Publishing date	2022-11-25
Publishing country	United States
Document type	Journal Article
ZDB-ID	3089-2
ISSN	1933-0693 ; 0022-3085
ISSN (online)	1933-0693
ISSN	0022-3085
DOI	10.3171/2022.10.JNS22956
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Article: It takes two to tango: mast cell and Schwann cell interactions in neurofibromas.

Viskochil, David H

The Journal of clinical investigation

2003 Volume 112, Issue 12, Page(s) 1791–1793

Abstract: Neurofibromas are benign tumors comprised primarily of Schwann cells and fibroblasts. Mast cell infiltration is a well-known phenomenon; however, their role in tumor pathogenesis has been enigmatic. In an elegant set of experiments using cells derived ... ...

Abstract	Neurofibromas are benign tumors comprised primarily of Schwann cells and fibroblasts. Mast cell infiltration is a well-known phenomenon; however, their role in tumor pathogenesis has been enigmatic. In an elegant set of experiments using cells derived from a murine model of neurofibromatosis 1 (NF1), Yang et al. dissect the molecular pathways involved in mast cell migration to neurofibromin-deficient Schwann cells. These results set the stage for rational development of therapeutics that could influence the multicellular microenvironment of neurofibromas to inhibit the development and/or progression of these tumors in human NF1.
MeSH term(s)	Alleles ; Animals ; Disease Progression ; Fibroblasts/metabolism ; Humans ; Mast Cells/metabolism ; Mice ; Mice, Transgenic ; Models, Biological ; Mutation ; Neoplasms/metabolism ; Neurofibroma/metabolism ; Neurofibromin 1/metabolism ; Schwann Cells/metabolism ; Signal Transduction ; Stem Cell Factor/metabolism
Chemical Substances	Neurofibromin 1 ; Stem Cell Factor
Language	English
Publishing date	2003-12
Publishing country	United States
Document type	Comment ; Journal Article ; Review
ZDB-ID	3067-3
ISSN	1558-8238 ; 0021-9738
ISSN (online)	1558-8238
ISSN	0021-9738
DOI	10.1172/JCI20503
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Article ; Online: Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.

Viskochil, David / Clarke, Lorne A / Bay, Luisa / Keenan, Hillary / Muenzer, Joseph / Guffon, Nathalie

American journal of medical genetics. Part A

2019 Volume 179, Issue 12, Page(s) 2425–2432

Abstract: Mucopolysaccharidosis Type I (MPS I), caused by deficiency of α-L-iduronidase results in progressive, multisystemic disease with a broad phenotypic spectrum including patients with severe (Hurler syndrome) to attenuated (Hurler-Scheie and Scheie ... ...

Abstract	Mucopolysaccharidosis Type I (MPS I), caused by deficiency of α-L-iduronidase results in progressive, multisystemic disease with a broad phenotypic spectrum including patients with severe (Hurler syndrome) to attenuated (Hurler-Scheie and Scheie syndromes) disease. Disordered growth is common with either phenotype. The study objectives were to construct sex- and age-specific estimated length/height and head circumference growth curves for untreated individuals with severe and attenuated disease and compare them with clinical reference standards. Untreated individuals in the MPS I Registry with at least one observation for length/height and/or head circumference and assigned phenotype as of May 2017 were included. Median growth for 463 untreated individuals with severe disease deviated from reference growth curves by ~6 months of age and fell below the third percentile by 4 years of age. Median head circumference was above reference curves from 3 to 4 months through 3 years of age. Among 207 individuals with untreated attenuated disease, median height fell below the third percentile by 9 years of age with divergence from reference curves by 2 years of age. MPS I-specific growth curves will be useful in evaluation of long-term outcomes of therapeutics interventions and will provide a foundation for understanding the pathogenesis of skeletal disease in MPS I.
MeSH term(s)	Child, Preschool ; Female ; Growth Charts ; Humans ; Infant ; Infant, Newborn ; Male ; Mucopolysaccharidosis I/diagnosis ; Mucopolysaccharidosis I/epidemiology ; Mucopolysaccharidosis I/genetics ; Mucopolysaccharidosis I/therapy ; Phenotype ; Population Surveillance ; Registries
Language	English
Publishing date	2019-10-22
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.61378
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Article ; Online: Visual outcomes following everolimus targeted therapy for neurofibromatosis type 1-associated optic pathway gliomas in children.

Ullrich, Nicole J / Prabhu, Sanjay P / Packer, Roger J / Goldman, Stewart / Robison, Nathan J / Allen, Jeffrey C / Viskochil, David H / Gutmann, David H / Perentesis, John P / Korf, Bruce R / Fisher, Michael J / Kieran, Mark W

Pediatric blood & cancer

2020 Volume 68, Issue 4, Page(s) e28833

Abstract: Data for visual acuity (VA) after treatment of neurofibromatosis type 1-associated optic pathway gliomas (NF1-OPGs) are limited. We retrospectively collected VA, converted to logMAR, before and after targeted therapy with everolimus for NF1-OPG, and ... ...

Abstract	Data for visual acuity (VA) after treatment of neurofibromatosis type 1-associated optic pathway gliomas (NF1-OPGs) are limited. We retrospectively collected VA, converted to logMAR, before and after targeted therapy with everolimus for NF1-OPG, and compared to radiologic outcomes (14/18 with NF1-OPG, 25 eyes [three without quantifiable vision]). Upon completion of treatment, VA was stable in 19 eyes, improved in four eyes, and worsened in two eyes; visual and radiologic outcomes were discordant. In summary, the majority of children with NF1-OPG exhibited stabilization of their VA after everolimus treatment. A larger, prospective study will help delineate visual outcomes after targeted therapy.
MeSH term(s)	Adolescent ; Adult ; Antineoplastic Agents/therapeutic use ; Child ; Child, Preschool ; Everolimus/therapeutic use ; Female ; Humans ; Infant ; Male ; Neurofibromatosis 1/drug therapy ; Neurofibromatosis 1/physiopathology ; Optic Nerve Glioma/drug therapy ; Optic Nerve Glioma/physiopathology ; Retrospective Studies ; Treatment Outcome ; Visual Acuity/drug effects ; Young Adult
Chemical Substances	Antineoplastic Agents ; Everolimus (9HW64Q8G6G)
Language	English
Publishing date	2020-12-18
Publishing country	United States
Document type	Clinical Trial, Phase II ; Journal Article ; Multicenter Study ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	2131448-2
ISSN	1545-5017 ; 1545-5009
ISSN (online)	1545-5017
ISSN	1545-5009
DOI	10.1002/pbc.28833
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Article ; Online: Racial/ethnic disparities and incidence of malignant peripheral nerve sheath tumors: results from the Surveillance, Epidemiology, and End Results Program, 2000-2014.

Peckham-Gregory, Erin C / Montenegro, Roberto E / Stevenson, David A / Viskochil, David H / Scheurer, Michael E / Lupo, Philip J / Schiffman, Joshua D

Journal of neuro-oncology

2018 Volume 139, Issue 1, Page(s) 69–75

Abstract: Background: Malignant peripheral nerve sheath tumors (MPNSTs) are rare tumors, generally high-grade, and comprise ~ 5-10% of soft tissue sarcomas. Over two-thirds of MPNSTs metastasize, and upwards of 40% clinically recur. Etiologic risk factors for ... ...

Abstract	Background: Malignant peripheral nerve sheath tumors (MPNSTs) are rare tumors, generally high-grade, and comprise ~ 5-10% of soft tissue sarcomas. Over two-thirds of MPNSTs metastasize, and upwards of 40% clinically recur. Etiologic risk factors for MPNSTs are historically understudied. There is evidence to suggest MPNST incidence differs across racial/ethnic groups in pediatric populations. Therefore, we sought to estimate differences in MPNST incidence by race/ethnicity among all ages in the United States. Methods: Incidence data were obtained from the Surveillance, Epidemiology, and End Results (SEER-18) Program, 2000-2014. Race/ethnicity was categorized as: White; Black; Asian; Other; and Latino/a ("Spanish-Hispanic-Latino"). Latino/a included all races, while all other categories excluded those identified as Latino/a. Age-adjusted incidence rate ratios (IRR) and 95% confidence intervals (CIs) were generated in SEER-STAT (v8.3.4). We estimated incidence rates among all ages, and among those diagnosed < 25 and ≥ 25 years. Results: MPNST cases were abstracted from SEER-18 (n = 1047). Among all age groups, Blacks experienced an elevated incidence of MPNSTs compared to Whites (IRR Conclusions: Incidence rates of MPNSTs were highest in Blacks compared to Whites and other minority groups. This study suggests specific patterns exist in terms of race/ethnicity and age at diagnosis of MPNSTs.
MeSH term(s)	Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Continental Population Groups ; Ethnic Groups ; Female ; Humans ; Incidence ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Nerve Sheath Neoplasms/ethnology ; SEER Program ; United States/epidemiology ; Young Adult
Language	English
Publishing date	2018-04-16
Publishing country	United States
Document type	Journal Article
ZDB-ID	604875-4
ISSN	1573-7373 ; 0167-594X
ISSN (online)	1573-7373
ISSN	0167-594X
DOI	10.1007/s11060-018-2842-4
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Article ; Online: Evaluation of racial disparities in pediatric optic pathway glioma incidence: Results from the Surveillance, Epidemiology, and End Results Program, 2000-2014.

Peckham-Gregory, Erin C / Montenegro, Roberto E / Stevenson, David A / Viskochil, David H / Scheurer, Michael E / Lupo, Philip J / Schiffman, Joshua D

Cancer epidemiology

2018 Volume 54, Page(s) 90–94

Abstract: Background: Racial predilection to pediatric cancer exists; however optic pathway glioma (OPG) risk differences by race/ethnicity are undefined. We estimated differences in OPG incidence across racial/ethnic groups in a multi-state cancer surveillance ... ...

Abstract	Background: Racial predilection to pediatric cancer exists; however optic pathway glioma (OPG) risk differences by race/ethnicity are undefined. We estimated differences in OPG incidence across racial/ethnic groups in a multi-state cancer surveillance registry in the United States. Methods: OPG data were obtained from the Surveillance, Epidemiology, and End Results (SEER-18) Program, 2000-2014. Race/ethnicity was categorized as: White; Black; Asian; Other; and Latino/a ("Spanish-Hispanic-Latino"). Latino/a included all races, while all other categories excluded those identified as Latino/a. Age-adjusted incidence rates and rate ratios (IRR) with 95% confidence intervals (CIs) were generated in SEER-STAT (v8.3.4). Results: Data on 709 OPG cases ages 0-19 were abstracted from SEER-18. Minority children experienced lower age-adjusted OPG incidence rates compared to White children (IRR Conclusions: Incidence of OPGs was highest among White children. This study represents one of the largest to assess differences in OPG susceptibility by race/ethnicity. These findings may inform future studies that seek to evaluate modifying factors for this pediatric tumor including tumorigenesis, treatment, outcome, and long-term late effects.
MeSH term(s)	Adolescent ; Adult ; Child ; Child, Preschool ; Continental Population Groups/statistics & numerical data ; Ethnic Groups/statistics & numerical data ; Female ; Humans ; Incidence ; Infant ; Infant, Newborn ; Male ; Minority Groups/statistics & numerical data ; Optic Nerve Glioma/epidemiology ; Optic Nerve Glioma/ethnology ; Registries ; SEER Program ; United States/epidemiology ; Young Adult
Language	English
Publishing date	2018-04-21
Publishing country	Netherlands
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2508729-0
ISSN	1877-783X ; 1877-7821
ISSN (online)	1877-783X
ISSN	1877-7821
DOI	10.1016/j.canep.2018.04.005
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Article ; Online: Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA.

Cortes-Ciriano, Isidro / Steele, Christopher D / Piculell, Katherine / Al-Ibraheemi, Alyaa / Eulo, Vanessa / Bui, Marilyn M / Chatzipli, Aikaterini / Dickson, Brendan C / Borcherding, Dana C / Feber, Andrew / Galor, Alon / Hart, Jesse / Jones, Kevin B / Jordan, Justin T / Kim, Raymond H / Lindsay, Daniel / Miller, Colin / Nishida, Yoshihiro / Proszek, Paula Z /

Serrano, Jonathan / Sundby, R Taylor / Szymanski, Jeffrey J / Ullrich, Nicole J / Viskochil, David / Wang, Xia / Snuderl, Matija / Park, Peter J / Flanagan, Adrienne M / Hirbe, Angela C / Pillay, Nischalan / Miller, David T

Cancer discovery

2023 Volume 13, Issue 3, Page(s) 654–671

Abstract: Malignant peripheral nerve sheath tumor (MPNST), an aggressive soft-tissue sarcoma, occurs in people with neurofibromatosis type 1 (NF1) and sporadically. Whole-genome and multiregional exome sequencing, transcriptomic, and methylation profiling of 95 ... ...

Abstract	Malignant peripheral nerve sheath tumor (MPNST), an aggressive soft-tissue sarcoma, occurs in people with neurofibromatosis type 1 (NF1) and sporadically. Whole-genome and multiregional exome sequencing, transcriptomic, and methylation profiling of 95 tumor samples revealed the order of genomic events in tumor evolution. Following biallelic inactivation of NF1, loss of CDKN2A or TP53 with or without inactivation of polycomb repressive complex 2 (PRC2) leads to extensive somatic copy-number aberrations (SCNA). Distinct pathways of tumor evolution are associated with inactivation of PRC2 genes and H3K27 trimethylation (H3K27me3) status. Tumors with H3K27me3 loss evolve through extensive chromosomal losses followed by whole-genome doubling and chromosome 8 amplification, and show lower levels of immune cell infiltration. Retention of H3K27me3 leads to extensive genomic instability, but an immune cell-rich phenotype. Specific SCNAs detected in both tumor samples and cell-free DNA (cfDNA) act as a surrogate for H3K27me3 loss and immune infiltration, and predict prognosis. Significance: MPNST is the most common cause of death and morbidity for individuals with NF1, a relatively common tumor predisposition syndrome. Our results suggest that somatic copy-number and methylation profiling of tumor or cfDNA could serve as a biomarker for early diagnosis and to stratify patients into prognostic and treatment-related subgroups. This article is highlighted in the In This Issue feature, p. 517.
MeSH term(s)	Humans ; Neurofibrosarcoma/genetics ; Neurofibrosarcoma/diagnosis ; Neurofibrosarcoma/pathology ; Histones/metabolism ; DNA Methylation ; Biomarkers, Tumor/genetics ; Biomarkers, Tumor/metabolism ; Neurofibromatosis 1/genetics ; Genomics ; Nerve Sheath Neoplasms/genetics ; Nerve Sheath Neoplasms/metabolism
Chemical Substances	Histones ; Biomarkers, Tumor
Language	English
Publishing date	2023-01-04
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Intramural
ZDB-ID	2625242-9
ISSN	2159-8290 ; 2159-8274
ISSN (online)	2159-8290
ISSN	2159-8274
DOI	10.1158/2159-8290.CD-22-0786
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