Article
Public, Environmental & Occupational Health
Maria C. Magnus, Alexandra Havdahl, Allen J. Wilcox, Alice Goisis
Summary: Parental time-to-pregnancy is modestly but robustly associated with neurodevelopmental delays and difficulties in offspring, with no additional impact of assisted reproductive technologies.
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
(2022)
Article
Clinical Neurology
Svea Horn, Magdalena Danyel, Nina Erdmann, Felix Boschann, Cecilia Gunnarsson, Saskia Biskup, Jerome Juengling, Cornelia Potratz, Christine Prager, Angela M. Kaindl
Summary: Recently, biallelic variants in the KPTN gene have been identified in individuals with a novel syndrome called autosomal recessive intellectual developmental disorder 41 (MRT41). MRT41 is characterized by developmental delay, language development impairment, behavioral abnormalities, and epilepsy. Through exome sequencing, three different biallelic variants in KPTN were discovered in five affected individuals from three unrelated families. This research further delineates the KPTN-related syndrome, highlighting the severity of epilepsy phenotypes and treatment difficulties.
FRONTIERS IN NEUROLOGY
(2023)
Article
Pediatrics
Mayank Nilay, Priyanka Srivastava, Archana Rai, Shubha R. Phadke
Summary: The case study presented a 1-year-old boy with global developmental delay resembling Robinow syndrome, with cytogenetic microarray showing chromosome imbalances. Robinow syndrome, a rare genetic disorder, is characterized by distinctive facial features such as macrocephaly, low-set ears, and broad great toes. This chromosomal abnormality in the case may provide insight into new genes related to the etiology of Robinow syndrome.
INDIAN JOURNAL OF PEDIATRICS
(2021)
Article
Genetics & Heredity
Hadia Hijazi, Linda M. Reis, Davut Pehlivan, Jonathan A. Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A. Estiar, Ziv Gan-Or, Guy A. Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agnes Guichet, Dominique Bonneau, R. H. van Jaarsveld, A. M. A. Lachmeijer, Lyse Ruaud, Jonathan Levy, Anne-Claude Tabet, Rafal Ploski, Magorzata Rydzanicz, Lukasz Kepczynski, Katarzyna Poatynska, Yidan Li, Jawid M. Fatih, Dana Marafi, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Weimin Bi, Richard A. Gibbs, Grace M. Hobson, Jill V. Hunter, Claudia M. B. Carvalho, Jennifer E. Posey, Elena V. Semina, James R. Lupski
Summary: This study confirms that loss of function of TCEAL1 causes a neurological rare disease trait that overlaps with the EONDT phenotype in females with Xq22 deletion, including hypotonia, intellectual disability, neurobehavioral abnormalities, and dysmorphic facial features.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Genetics & Heredity
Rose Guo, Alyssa L. Rippert, Edward B. Cook, Cesar Augusto P. Alves, Lynne M. Bird, Kosuke Izumi
Summary: Eukaryotic translation elongation factor 2 (eEF2) is associated with two different neurodevelopmental disorders. Patient 1 is a male with motor and speech delay, autism spectrum disorder, failure to thrive, unilateral microphthalmia with coloboma, and eczema, caused by a known gene variant (p.V28M). Patient 2 is a female with motor and speech delay, hypotonia, macrocephaly with benign ventricular enlargement, and keratosis pilaris, caused by a novel gene variant (p.Q145X). These additional cases expand the genotypic and phenotypic spectrum of the EEF2-related neurodevelopmental syndrome.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Cell Biology
Matthias Fischer, Eva Klopocki
Summary: The 22q11.2 microduplication syndrome exhibits variable phenotypes with reduced penetrance compared to the 22q11.2 deletion syndrome. The reported case of a woman with overgrowth, macrocephaly, and a 246-kb duplication at the 22q11.2 region resembles a previously published case with similar features and an almost identical 252 kb duplication.
CYTOGENETIC AND GENOME RESEARCH
(2021)
Article
Obstetrics & Gynecology
Elisa T. Bushman, Christina Blanchard, Rachael G. Sinkey, Stacy Harris, Brian Casey, Alan T. Tita, Manimaran Ramani, Lorie M. Harper
Summary: Variation in head circumference within the normal range is not associated with neurodevelopmental outcomes at 2 years old.
AMERICAN JOURNAL OF PERINATOLOGY
(2021)
Review
Genetics & Heredity
Tingying Lei, Li Zhen, Xin Yang, Min Pan, Fang Fu, Jin Han, Lushan Li, Dongzhi Li, Can Liao
Summary: PPP2R1A-related neurodevelopmental disorder (NDD) is a rare genetic condition characterized by hypotonia, developmental delay, intellectual disability, agenesis of corpus callosum, ventriculomegaly, and dysmorphic features. This study reports on the prenatal diagnosis of PPP2R1A-related NDD in two fetuses using whole exome sequencing, which revealed pathogenic de novo mutations in the PPP2R1A gene. Prenatal diagnosis of this condition can expand the understanding of its fetal phenotype and facilitate counseling for prospective parents.
Article
Genetics & Heredity
Thiago Correa, Cintia B. Santos-Reboucas, Maytza Mayndra, Albert Schinzel, Mariluce Riegel
Summary: Chromosomal duplications are associated with a variety of human diseases, including intellectual disabilities. This study identified functional relationships among genes in duplicated chromosomal regions and demonstrated shared biological processes associated with intellectual disabilities between proteins from different chromosomal regions. The study also proposed a shared model of pathways related to the central nervous system that could disrupt cognitive function and lead to intellectual disabilities.
Article
Medicine, General & Internal
Albert Manasyan, Ariel A. Salas, Tracy Nolen, Elwyn Chomba, Manolo Mazariegos, Antoinette Tshefu Kitoto, Sarah Saleem, Farnaz Naqvi, K. Michael Hambidge, Norman Goco, Elizabeth M. McClure, Jan L. Wallander, Fred J. Biasini, Robert L. Goldenberg, Carl L. Bose, Marion Koso-Thomas, Nancy F. Krebs, Waldemar A. Carlo
Summary: This study compared the performance of the Ages and Stages Questionnaire (ASQ) and the Bayley Scales of Infant Development (BSID) second edition as screening tools for neurodevelopmental disorders in low-resource countries. The results showed that ASQ had high specificity but low sensitivity in 18-month-old infants. Therefore, when administered by trained healthcare workers, ASQ may be a useful screening tool.
Review
Psychiatry
Ciara J. Molloy, Ciara Quigley, Aine McNicholas, Linda Lisanti, Louise Gallagher
Summary: The heritability of intelligence or general cognitive ability is estimated to be 41% and 66% in children and adults, respectively. Rare copy number variants (ND-CNV) are associated with neurodevelopmental and neuropsychiatric conditions and can contribute to the variability in cognitive ability. This review examines the impact of ND-CNV on intelligence and cognitive function in both general population and clinical cohorts, and identifies genotype-specific cognitive phenotypes. The findings show that ND-CNV have cognitive impacts across different populations, but more studies and larger sample sizes are needed to determine ND-CNV-specific effects.
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Environmental Sciences
Seonyoung Park, Emily Zimmerman, Gredia Huerta-Montanez, Zaira Rosario-Pabon, Carmen M. Velez-Vega, Jose F. Cordero, Akram Alshwabekah, John D. Meeker, Deborah J. Watkins
Summary: Phthalates and phthalate replacements have been found to be associated with neurodevelopmental delays in children, with sex-specific differences. The study analyzed data from a birth cohort in Puerto Rico and found that mono-3-carboxypropyl phthalate (MCPP) was significantly associated with developmental delay across all domains. Additionally, di-2-ethylhexyl terephthalate (DEHTP), a recent phthalate replacement, showed differential associations with the adaptive and cognitive domains in boys compared to girls at 6 months of age.
Article
Clinical Neurology
Federica Maruccia, Laura Gomariz, Katiuska Rosas, Turgut Durduran, Fernando Paredes-Carmona, Juan Sahuquillo, Maria A. Poca
Summary: The study examines the prevalence and pattern of neurodevelopmental delay in a cohort of children with benign external hydrocephalus (BEH). Results show that 43% of BEH children had lower scores in gross motor and composite motor of the Bayley-III scales compared to their healthy peers. This highlights the importance of establishing a diagnostic algorithm to differentiate BEH patients with self-limiting delays from those at risk of persistent delay.
CHILDS NERVOUS SYSTEM
(2021)
Article
Multidisciplinary Sciences
Jingling Li, Thomas Brickler, Allison Banuelos, Kristopher Marjon, Anna Shcherbina, Sravani Banerjee, Jing Bian, Cyndhavi Narayanan, Irving L. Weissman, Sundari Chetty
Summary: CNV at the 16p11.2 locus is linked to neuropsychiatric disorders and affects head sizes differently. Study using hiPSCs reveals that overexpression of CD47 in 16p11.2 deletion carriers decreases phagocytosis, suggesting a potential mechanism for brain overgrowth.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Genetics & Heredity
Meilin Chen, Yingting Quan, Guiqin Duan, Huidan Wu, Ting Bai, Yazhe Wang, Shimin Zhou, Jianjun Ou, Yidong Shen, Zhengmao Hu, Kun Xia, Hui Guo
Summary: SETD2 gene plays a crucial role in early development and variations in this gene have been associated with neurodevelopmental disorders. Our study identified new de novo SETD2 mutations and revealed a common phenotype spectrum in individuals with these mutations, providing valuable information for disease classification and diagnosis.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2021)
Article
Genetics & Heredity
Joshua A. Smith, Kenton R. Holden, Michael J. Friez, Julie R. Jones, Michael J. Lyons
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2016)
Article
Genetics & Heredity
Aravindhan Veerapandiyan, Omar A. Abdul-Rahman, Margaret P. Adam, Michael J. Lyons, Melanie Manning, Karlene Coleman, Lisa Kobrynski, Deeksha Taneja, Kelly Schoch, Holly H. Zimmerman, Vandana Shashi
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2011)
Article
Genetics & Heredity
Yuri A. Zarate, Alka Dwivedi, Frank O. Bartel, M. Allison Bellomo, Sara S. Cathey, Neena L. Champaigne, L. Kate Clarkson, Barbara R. DuPont, David B. Everman, Joseph S. Geer, Barbara C. Gordon, Angie W. Lichty, Michael J. Lyons, R. Curtis Rogers, Robert A. Saul, Richard J. Schroer, Steven A. Skinner, Roger E. Stevenson
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2013)
Article
Genetics & Heredity
Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine Armstrong Bosanko, Dusica Babovic-Vuksanovic, Laura Baker, Donald G. Basel, Mario Bengala, James T. Bennett, Chelsea Chambers, Lola K. Clarkson, Maurizio Clementi, Fanny M. Cortes, Mitch Cunningham, M. Daniela D'Agostino, Martin B. Delatycki, Maria C. Digilio, Laura Dosa, Silvia Esposito, Stephanie Fox, Mary-Louise Freckmann, Christine Fauth, Teresa Giugliano, Sandra Giustini, Allison Goetsch, Yael Goldberg, Robert S. Greenwood, Cristin Griffis, Karen W. Gripp, Punita Gupta, Eric Haan, Rachel K. Hachen, Tamara L. Haygarth, Concepcion Hernandez-Chico, Katelyn Hodge, Robert J. Hopkin, Louanne Hudgins, Sandra Janssens, Kory Keller, Geraldine Kelly-Mancuso, Aaina Kochhar, Bruce R. Korf, Andrea M. Lewis, Jan Liebelt, Angie Lichty, Robert H. Listernick, Michael J. Lyons, Isabelle Maystadt, Mayra Martinez Ojeda, Carey McDougall, Lesley K. McGregor, Daniela Melis, Nancy Mendelsohn, Malgorzata J. M. Nowaczyk, June Ortenberg, Karin Panzer, John G. Pappas, Mary Ella Pierpont, Giulio Piluso, Valentina Pinna, Eniko K. Pivnick, Dinel A. Pond, Cynthia M. Powell, Caleb Rogers, Noa Ruhrman Shahar, S. Lane Rutledge, Veronica Saletti, Sarah A. Sandaradura, Claudia Santoro, Ulrich A. Schatz, Allison Schreiber, Daryl A. Scott, Elizabeth A. Sellars, Ruth Sheffer, Elizabeth Siqveland, John M. Slopis, Rosemarie Smith, Alberto Spalice, David W. Stockton, Haley Streff, Amy Theos, Gail E. Tomlinson, Grace Tran, Pamela L. Trapane, Eva Trevisson, Nicole J. Ullrich, Jenneke Van den Ende, Samantha A. Schrier Vergano, Stephanie E. Wallace, Michael F. Wangler, David D. Weaver, Kaleb H. Yohay, Elaine Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen B. M. Claes, Marica Eoli, Yolanda Martin, Katharina Wimmer, Alessandro De Luca, Eric Legius, Ludwine M. Messiaen
Article
Genetics & Heredity
William Burns, Lynne M. Bird, Delphine Heron, Boris Keren, Divya Ramachandra, Isabelle Thiffault, Florencia Del Viso, Shivarajan Amudhavalli, Kendra Engleman, Ilaria Parenti, Frank J. Kaiser, Jolanta Wierzba, Korbinian M. Riedhammer, Susanne Liptay, Neda Zadeh, Joseph Porrmann, Andrea Fischer, Sophie Gosswein, Heather M. McLaughlin, Aida Telegrafi, Katherine G. Langley, Richard Steet, Raymond J. Louie, Michael J. Lyons
Summary: The study presents a cohort of individuals with de novo missense alterations in the DDX23 gene, linked to a syndrome characterized by atypical neurodevelopment. The patients exhibited features including tone abnormalities, global developmental delay, facial dysmorphism, autism spectrum disorder, and seizures, along with other findings in skeletal, renal, ocular, and cardiac systems. The missense alterations occurred within a highly conserved RecA-like domain of the protein, highlighting the role of DDX23 in various human disorders.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Clinical Neurology
Michelle E. Ernst, Evan H. Baugh, Amanda Thomas, Louise Bier, Natalie Lippa, Nicholas Stong, Maureen S. Mulhern, Sulagna Kushary, Cigdem I. Akman, Erin L. Heinzen, Raymond Yeh, Weimin Bi, Neil A. Hanchard, Lindsay C. Burrage, Magalie S. Leduc, Josephine S. C. Chong, Renee Bend, Michael J. Lyons, Jennifer A. Lee, Pim Suwannarat, Eva Brilstra, Marleen Simon, Marije Koopmans, Ellen van Binsbergen, Daniel Groepper, Julie Fleischer, Caroline Nava, Boris Keren, Cyril Mignot, Sophie Mathieu, Grazia M. S. Mancini, Suneeta Madan-Khetarpal, Elena M. Infante, Judith Bluvstein, Andrea Seeley, Kristine Bachman, Eric W. Klee, Laura E. Schultz-Rogers, Linda Hasadsri, Sarah Barnett, Marissa S. Ellingson, Matthew J. Ferber, Vinodh Narayanan, Keri Ramsey, Anita Rauch, Pascal Joset, Katharina Steindl, Theodore Sheehan, Annapurna Poduri, Alejandra Vasquez, Claudia Ruivenkamp, Susan M. White, Lynn Pais, Kristin G. Monaghan, David B. Goldstein, Tristan T. Sands, Vimla Aggarwal
Summary: CSNK2B has been identified as a disease gene for neurodevelopmental disability (NDD) and epilepsy. This study presented 25 new patients with CSNK2B variants, showing a wide spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. The findings suggest that CSNK2B should be considered in the diagnostic evaluation of patients with a broad range of NDD with treatable or intractable seizures.
Article
Genetics & Heredity
Kameryn M. Butler, Timothy Fee, Barbara R. DuPont, Jane H. Dean, Roger E. Stevenson, Michael J. Lyons
Summary: Chromosomal aneuploidies, microduplications, and microdeletions are the main genetic causes of spina bifida. A study confirmed the linkage between spina bifida and microduplications of Xq27, which includes the SOX3 gene. In a 29-year program, a three-generation kindred with a SOX3 duplication was identified, along with other recurrences in different families.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Medicine, General & Internal
Isaac Molinero, Jordan Broman-Fulks, Michael J. Lyons, Maria Gisele Matheus, Alka Chaubey, Barbara R. DuPont, Michael J. Friez, Steve A. Skinner, Kenton R. Holden
CLINICAL CASE REPORTS
(2016)
Article
Clinical Neurology
Michael J. Lyons, Tim Wood, Lesby Espinoza, Hilde Monica Frostad Riise Stensland, Kenton R. Holden
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2007)