John Pappas
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View article: Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder Open
Our results establish XPO1 as a novel dominant monogenic neurodevelopmental disorder gene and demonstrate a central role for XPO1 in development.
View article: Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia
Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia Open
Fanconi anemia (FA) is a rare genetic disease characterized by loss-of-function variants in any of the 22 previously identified genes (FANCA-FANCW) that encode proteins participating in the repair of DNA interstrand crosslinks (ICLs). Pati…
View article: De novo variants in<i>KDM2A</i>cause a syndromic neurodevelopmental disorder
De novo variants in<i>KDM2A</i>cause a syndromic neurodevelopmental disorder Open
Germline variants that disrupt components of the epigenetic machinery cause syndromic neurodevelopmental disorders. Using exome and genome sequencing, we identified de novo variants in KDM2A , a lysine demethylase crucial for embryonic dev…
View article: DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders Open
View article: Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders Open
One group had variants in the cholesterol-binding motif of the transmembrane domain, with most of these being the recurrent variant c.1301A>G p.(Tyr434Cys). These variants probably lead to upregulation of tropomyosin receptor kinase B acti…
View article: 7238 A rare cause of primary ovarian failure in an adolescent due to a genetic mutation in mitochondrial poly-A-polymerase (mTPAP) mRNA
7238 A rare cause of primary ovarian failure in an adolescent due to a genetic mutation in mitochondrial poly-A-polymerase (mTPAP) mRNA Open
Disclosure: J. Epstein: None. S. Veera: None. J. Pappas: None. B.C. Shah: None. Primary ovarian insufficiency (POI) is a dysfunction or loss of ovarian follicles with associated amenorrhea. While most causes are idiopathic, approximately 1…
View article: 8242 A Case of Ayme Gripp Syndrome
8242 A Case of Ayme Gripp Syndrome Open
Disclosure: P. Jaisinghani: Consulting Fee; Self; Novo Nordisk. J. Pappas: None. We present a 35 year old female with cataracts, generalized seizures and oligodontia, referred to us for hair loss and elevated TSH. For over 10 years, patien…
View article: Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders Open
This study provides a comprehensive characterization of the clinical spectrum of both autosomal recessive and dominant forms of ACTL6B-associated disorders. It offers a comparative analysis of their respective phenotypes provides a plausib…
View article: Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations Open
CSMD1 ( Cub and Sushi Multiple Domains 1 ) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central nervous system (CNS) where emergent functio…
View article: Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies Open
Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis.…
View article: Relapsing White Matter Disease and Subclinical Optic Neuropathy
Relapsing White Matter Disease and Subclinical Optic Neuropathy Open
A 16-year-old adolescent boy presented with recurrent episodes of weakness and numbness. Brain MRI demonstrated subcortical, juxtacortical, and periventricular white matter T2 hyperintensities with gadolinium enhancement. CSF was positive …
View article: P454: Deletion of exons 10 and 11 in FGFR2: Mother and daughter with sagittal craniosynostosis and micrognathia
P454: Deletion of exons 10 and 11 in FGFR2: Mother and daughter with sagittal craniosynostosis and micrognathia Open
Pathogenic variants in FGFR2 are associated with many well-established craniosynostosis syndromes including Apert, Pfeiffer, Crouzon Antley-Bixler, Beare-Stevenson cutis gyrata, Jackson-Weiss, Bent Bone Dysplasia, and Seathre-Chotzen-like …
View article: P282: Germline NF1 variant and mosaic chromoanasynthesis of chromosome 12
P282: Germline NF1 variant and mosaic chromoanasynthesis of chromosome 12 Open
Genomic instability, specifically chromosome instability, is a major characteristic of cancer. The RAS/MAPK pathway has been implicated in chromosome instability, although specific mechanisms are not completely understood. Chromosome insta…
View article: Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature Open
SETD2 belongs to the family of histone methyltransferase proteins and has been associated with three nosologically distinct entities with different clinical and molecular features: Luscan–Lumish syndrome (LLS), intellectual developmental d…
View article: Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans Open
Although protein hydroxylation is a relatively poorly characterized posttranslational modification, it has received significant recent attention following seminal work uncovering its role in oxygen sensing and hypoxia biology. Although the…
View article: Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration Open
View article: ODP380 Case of Skeletal Dysplasia in Post-Menarchal Pediatric Patient due to Novel Mutation of CSGALNACT1
ODP380 Case of Skeletal Dysplasia in Post-Menarchal Pediatric Patient due to Novel Mutation of CSGALNACT1 Open
We report the case of a 14 year old Yemenite female diagnosed with autosomal recessive skeletal dysplasia secondary to a novel mutation of CSGALNACT1. She was initially referred to pediatric endocrine for poor linear growth at the age of 1…
View article: De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations Open
We present genomic and functional evidence for disruption of ZMYND8 as a novel etiology of syndromic intellectual disability.
View article: eP220: Expanding the phenotypic spectrum of COLEC10-related 3MC syndrome: A glimpse into COLEC10-related 3MC syndrome in the Ashkenazi Jewish population
eP220: Expanding the phenotypic spectrum of COLEC10-related 3MC syndrome: A glimpse into COLEC10-related 3MC syndrome in the Ashkenazi Jewish population Open
View article: Severe Acute Systemic Reaction After the First Injections of Ixekizumab
Severe Acute Systemic Reaction After the First Injections of Ixekizumab Open
We report the case of a 39-year-old woman who presented with generalized malaise; lymphadenopathy; arthritis; dactylitis; ecchymosis; acute onycholysis; and a red, nonpruritic, nonscaly, mottled rash on the right breast 24 hours after the …
View article: De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca <sup>2+</sup> regulation
De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca <sup>2+</sup> regulation Open
Significance Approximately 400 United States children 1 y of age and older die suddenly from unexplained causes annually. We studied whole-exome sequence data from 124 “trios” (decedent child and living parents) to identify genetic risk fa…
View article: Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>
Expanding the phenotype of <span><i>ASXL3</i></span>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <span><i>ASXL3</i></span> Open
The study aimed at widening the clinical and genetic spectrum of ASXL3 ‐related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detai…
View article: <scp> <i>PPP3CA</i> </scp> truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy
<span> <i>PPP3CA</i> </span> truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy Open
PPP3CA encodes the catalytic subunit of calcineurin, a calcium‐calmodulin‐regulated serine–threonine phosphatase. Loss‐of‐function (LoF) variants in the catalytic domain have been associated with epilepsy, while gain‐of‐function (GoF) vari…
View article: Author response for "PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy"
Author response for "PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy" Open
View article: Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders Open
View article: EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum Open
View article: CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants Open
View article: A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing Open
View article: Additional file 1 of Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Additional file 1 of Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders Open
Additional file 1: Supplementary Tables S1-S12. Table S1. Cohorts utilized in current study. Table S2. Pathogenicity predictions by gnomAD and GeVIR for each hnRNP. Table S3. Significant p values of two-way ANOVA between cell type and tran…
View article: Additional file 1 of EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Additional file 1 of EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum Open
Additional file 1: Table S1. Detailed clinical information.