Search results for: Christina G.S. Palmer

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The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease

Allyn McConkie‐Rosell, Kelly Schoch, Jennifer Sullivan, Heidi Cope, more

While genomic sequencing (ES/GS) has the potential to diagnose children with difficult to diagnose phenotypes, the goal should be not only a diagnosis, but also to empower parents to seek next steps for their children and to emotionally manage the outcome, whether or not a diagnosis is secured. To help achieve this goal, objective measures are needed to assess the process of parental empowerment related...

article

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

Vandana Shashi, Janelle Geist, Youngha Lee, Yongjin Yoo, more

Human Mutation > 40 > 8 > 1115 - 1126

Encoding the slow skeletal muscle isoform of myosin binding protein‐C, MYBPC1 is associated with autosomal dominant and recessive forms of arthrogryposis. The authors describe a novel association for MYBPC1 in four patients from three independent families with skeletal muscle weakness, myogenic tremors, and hypotonia with gradual clinical improvement. The patients carried one of two de novo heterozygous...

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SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, more

Human Mutation > 40 > 7 > 908 - 925

Pathogenic de novo variants in the X‐linked gene SLC35A2 encoding the major Golgi‐localized UDP‐galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2‐congenital disorders of glycosylation (CDG; formerly CDG‐IIm). To date, 29 unique de novo variants from 32 unrelated individuals have been described in the...

article

IRF2BPL Is Associated with Neurological Phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, more

The American Journal of Human Genetics > 2018 > 103 > 2 > 245-260

Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Here we describe seven individuals who carry damaging heterozygous variants in IRF2BPL and are affected with neurological symptoms. Five individuals...

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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Monika Oláhová, Wan Hee Yoon, Kyle Thompson, Sharayu Jangam, more

The American Journal of Human Genetics > 2018 > 102 > 3 > 494-504

ATP synthase, H⁺ transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling proton translocation and ATP production. Here, we describe two individuals, each with homozygous missense variants in ATP5F1D, who presented with episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, and hyperammonemia...

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MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Julia Wang, Rami Al-Ouran, Yanhui Hu, Seon-Young Kim, more

The American Journal of Human Genetics > 2017 > 100 > 6 > 843-853

One major challenge encountered with interpreting human genetic variants is the limited understanding of the functional impact of genetic alterations on biological processes. Furthermore, there remains an unmet demand for an efficient survey of the wealth of information on human homologs in model organisms across numerous databases. To efficiently assess the large volume of publically available information,...

article

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel B. Ramoni, John J. Mulvihill, David R. Adams, Patrick Allard, more

The American Journal of Human Genetics > 2017 > 100 > 2 > 185-192

Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary, and collaborative in unprecedented ways. Exact disease recognition, an element of the concept of precision in medicine, requires new infrastructure that spans geography, institutional boundaries, and the divide between clinical care and research. The National Institutes of Health (NIH) Common Fund...

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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R. Bearden, more

The American Journal of Human Genetics > 2017 > 100 > 2 > 343-351

Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including...

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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G. Pappas, more

The American Journal of Human Genetics > 2017 > 100 > 1 > 128-137

Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that loss-of-function mutations are associated with a range of nervous system developmental defects, including perturbation of neuronal development and...

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Bilingual approach to online cancer genetics education for Deaf American Sign Language users produces greater knowledge and confidence than English text only: A randomized study

Christina G.S. Palmer, Patrick Boudreault, Barbara A. Berman, Alicia Wolfson, more

Disability and Health Journal > 2017 > 10 > 1 > 23-32

Deaf American Sign Language-users (ASL) have limited access to cancer genetics information they can readily understand, increasing risk for health disparities. We compared effectiveness of online cancer genetics information presented using a bilingual approach (ASL with English closed captioning) and a monolingual approach (English text).Bilingual modality would increase cancer genetics knowledge...

article

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Vandana Shashi, Loren D.M. Pena, Katherine Kim, Barbara Burton, more

The American Journal of Human Genetics > 2016 > 99 > 4 > 991-999

The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated in causing Bohring-Opitz and Bainbridge-Ropers syndromes, which result in overlapping features of severe...

article

Modeling maternal‐offspring gene‐gene interactions: the extended‐MFG test

Erica J. Childs, Christina G.S. Palmer, Kenneth Lange, Janet S. Sinsheimer

Genetic Epidemiology > 34 > 5 > 512 - 521

Maternal‐fetal genotype (MFG) incompatibility is an interaction between the genes of a mother and offspring at a particular locus that adversely affects the developing fetus, thereby increasing susceptibility to disease. Statistical methods for examining MFG incompatibility as a disease risk factor have been developed for nuclear families. Because families collected as part of a study can be large...

article

Effect of Rhesus D incompatibility on schizophrenia depends on offspring sex

Christina G.S. Palmer, Erin Mallery, Joni A. Turunen, Hsin-Ju Hsieh, more

Schizophrenia Research > 2008 > 104 > 1-3 > 135-145

Rhesus D incompatibility increases risk for schizophrenia, with some evidence that risk is limited to male offspring. The purpose of this study is to determine whether risk for schizophrenia due to Rhesus D incompatibility differs by offspring sex using a nuclear family-based candidate gene approach and a meta-analysis approach. The genetic study is based on a sample of 277 nuclear families with RHD...

article

Using the maternal-fetal genotype incompatibility test to assess non-inherited maternal HLA-DRB1 antigen coding alleles as rheumatoid arthritis risk factors

Hsin-Ju Hsieh, Christina Gs Palmer, Sinead Harney, Hsiu-Wen Chen, more

BMC Proceedings > 2007 > 1 > 1 > 1-4

Non-inherited maternal antigens encoded by specific HLA-DRB1 alleles (NIMA) have been implicated as a rheumatoid arthritis (RA) risk factor. Using genotype data from North American Rheumatoid Arthritis Consortium study participants and the maternal-fetal genotype incompatibility (MFG) test, we find evidence for offspring allelic effects but no evidence for NIMA as a RA risk factor. We discuss possible...

article

HLA-B Maternal-Fetal Genotype Matching Increases Risk of Schizophrenia

Christina G.S. Palmer, Hsin-Ju Hsieh, Elaine F. Reed, Jouko Lonnqvist, more

The American Journal of Human Genetics > 2006 > 79 > 4 > 710-715

Schizophrenia and human leukocyte antigen (HLA) matching between couples or between mothers and offspring have independently been associated with prenatal/obstetric complications, including preeclampsia and low birth weight. Here, we report the results of a family-based candidate-gene study that brings together these two disparate lines of research by assessing maternal-fetal genotype matching at...

article

RHD Maternal-Fetal Genotype Incompatibility Increases Schizophrenia Susceptibility

Christina G.S. Palmer, Joni A. Turunen, Janet S. Sinsheimer, Sonia Minassian, more

The American Journal of Human Genetics > 2002 > 71 > 6 > 1312-1319

Fetal events and obstetric complications are associated with schizophrenia. Here we report the results of a family-based candidate-gene study that assesses the role of maternal-fetal genotype incompatibility at the RHD locus in schizophrenia. We adapted the case-parent–trio log-linear modeling approach to test for RHD maternal-fetal genotype incompatibility and to distinguish this effect from a high-risk...

article

A Genomewide Scan for Loci Involved in Attention-Deficit/Hyperactivity Disorder

Simon E. Fisher, Clyde Francks, James T. McCracken, James J. McGough, more

The American Journal of Human Genetics > 2002 > 70 > 5 > 1183-1196

Attention deficit/hyperactivity disorder (ADHD) is a common heritable disorder with a childhood onset. Molecular genetic studies of ADHD have previously focused on examining the roles of specific candidate genes, primarily those involved in dopaminergic pathways. We have performed the first systematic genomewide linkage scan for loci influencing ADHD in 126 affected sib pairs, using a ∼10-cM grid...

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