22,603 results match your criteria American journal of medical genetics[Journal]


Genetic Variants May Play Role in Opioid Dependence.

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Am J Med Genet A 2020 Jun;182(6):1296-1297

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http://dx.doi.org/10.1002/ajmg.a.61612DOI Listing

Neurodevelopmental Disorder Defined in TET3-Deficient Individuals.

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Am J Med Genet A 2020 Jun;182(6):1295-1296

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http://dx.doi.org/10.1002/ajmg.a.61235DOI Listing

Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy.

Am J Med Genet C Semin Med Genet 2020 May 26. Epub 2020 May 26.

Department of Biological and Medical Sciences, Oxford Brookes University, Oxford, Oxfordshire, UK.

Sex chromosome trisomies (SCTs) (XXX, XXY, and XYY karyotypes) are associated with an elevated risk of neurodevelopmental disorders. The range of severity of the phenotype is substantial. We considered whether this variable outcome was related to the presence of copy number variants (CNVs)-stretches of duplicated or deleted DNA. Read More

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http://dx.doi.org/10.1002/ajmg.c.31791DOI Listing

Metabolic and cardiovascular risk factors in Klinefelter syndrome.

Am J Med Genet C Semin Med Genet 2020 May 26. Epub 2020 May 26.

Department of Experimental Medicine, Section of Medical Pathophysiology, Food Science and Endocrinology, Sapienza University of Rome, Rome, Italy.

Klinefelter syndrome (KS), which normally presents with a 47,XXY karyotype, is the most common sex chromosome disorder in males. It is also the most common genetic cause of male infertility. KS subjects are typically tall, with small and firm testes, gynecomastia, broad hips, and sparse body hair, although a less evident presentation is also possible. Read More

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http://dx.doi.org/10.1002/ajmg.c.31792DOI Listing

Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies.

Am J Med Genet C Semin Med Genet 2020 May 25. Epub 2020 May 25.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.

Sex chromosome aneuploidies (SCAs) are the most commonly occurring aneuploidies in children with a collective prevalence rate of 1 in 500 live births. Prior research has documented SCAs are associated with an increased risk for early expressive language and gross motor delays, learning disorders, ADHD, autism spectrum disorder, anxiety, and executive function problems. Although SCAs have been historically underdiagnosed in young children, recent advances in noninvasive prenatal testing have resulted in an increasing nationwide cohort of infants with confirmed diagnoses. Read More

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http://dx.doi.org/10.1002/ajmg.c.31785DOI Listing

Integration and reanalysis of transcriptomics and methylomics data derived from blood and testis tissue of men with 47,XXY Klinefelter syndrome indicates the primary involvement of Sertoli cells in the testicular pathogenesis.

Am J Med Genet C Semin Med Genet 2020 May 25. Epub 2020 May 25.

Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

Klinefelter syndrome (KS; 47,XXY) is the most common sex chromosomal anomaly and causes a multitude of symptoms. Often the most noticeable symptom is infertility caused by azoospermia with testicular histology showing hyalinization of tubules, germ cells loss, and Leydig cell hyperplasia. The germ cell loss begins early in life leading to partial hyalinization of the testis at puberty, but the mechanistic drivers behind this remain poorly understood. Read More

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http://dx.doi.org/10.1002/ajmg.c.31793DOI Listing

Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome.

Am J Med Genet A 2020 May 25. Epub 2020 May 25.

West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.

Holt-Oram syndrome (HOS) is a rare, autosomal dominant disorder caused by heterozygous pathogenic variants in cardiac T-box transcription factor, TBX5. Classically, it is associated with upper limb malformations and variable cardiac abnormalities. Limb manifestations are considered to be invariably present, ranging in severity from limitation in movement, to triphalangeal thumbs, absent thumbs, shortened forearms, or phocomelia. Read More

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http://dx.doi.org/10.1002/ajmg.a.61635DOI Listing

Parent perceptions, beliefs, and fears around genetic treatments and cures for children with Angelman syndrome.

Am J Med Genet A 2020 May 25. Epub 2020 May 25.

Centre for Clinical Trials in Rare Neurodevelopmental Disorders, Children's Health Queensland, Brisbane, Queensland, Australia.

Genetic therapies have shown recent promise in alleviating some of the cognitive issues associated with some genetic disorders; however, these therapies may come with significant health and socio-ethical concerns, particularly when they involve child participants. Little is known about what parents of children with genetic disorders think about genetic therapies, or about their knowledge of how genetic-based therapy might treat their child's symptoms. Forty-two parents of children with Angelman syndrome (AS) and 27 parents of a mixed etiology comparison group completed an online survey reporting on their perceptions of, and priorities for, genetic therapy. Read More

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http://dx.doi.org/10.1002/ajmg.a.61631DOI Listing

Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.

Am J Med Genet A 2020 May 25. Epub 2020 May 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

The mitochondrial aconitase gene (ACO2) encodes an enzyme that catalyzes the conversion of citrate to isocitrate in the tricarboxylic acid cycle. Biallelic variants in ACO2 are purported to cause two distinct disorders: infantile cerebellar-retinal degeneration (ICRD) which is characterized by CNS abnormalities, neurodevelopmental phenotypes, optic atrophy and retinal degeneration; and optic atrophy 9 (OPA9), characterized by isolated ophthalmologic phenotypes including optic atrophy and low vision. However, some doubt remains as to whether biallelic ACO2 variants can cause isolated ophthalmologic phenotypes. Read More

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http://dx.doi.org/10.1002/ajmg.a.61634DOI Listing

The burden of chronic disease, multimorbidity, and polypharmacy in adults with Down syndrome.

Am J Med Genet A 2020 May 25. Epub 2020 May 25.

Centro Medicina dell'Invecchiamento, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, and Università Cattolica del Sacro Cuore, Rome, Italy.

Data on clinical characteristics of adults with Down syndrome (DS) are limited and the clinical phenotype of these persons is poorly described. This study aimed to describe the occurrence of chronic diseases and pattern of medication use in a population of adults with DS. Participants were 421 community dwelling adults with DS, aged 18 years or older. Read More

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http://dx.doi.org/10.1002/ajmg.a.61636DOI Listing

Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant.

Am J Med Genet A 2020 May 25. Epub 2020 May 25.

Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan.

Pathogenic germline variants in the gap junction protein alpha 1 (GJA1) gene have been identified in several congenital disorders affecting cutaneous, skeletal, and cardiac tissues. Here, we describe a 12-year-old patient with a GJA1 c.113G>A, p. Read More

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http://dx.doi.org/10.1002/ajmg.a.61626DOI Listing

A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.

Am J Med Genet A 2020 May 22. Epub 2020 May 22.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.

Schinzel-Giedion syndrome (SGS; OMIM 269150) is an ultra-rare genetic disorder associated with a distinctive facial gestalt, congenital malformations, severe intellectual disability, and a progressive neurological course. The prognosis for SGS is poor, with survival beyond the first decade rare. Germline, de novo heterozygous variants in the SETBP1 gene cause SGS with the pathogenic variants associated with the SGS phenotype missense and confined to exon 4 of the gene, clustered in a four amino acid (12 bp) hotspot in the SKI homologous region of the SETBP1 protein. Read More

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http://dx.doi.org/10.1002/ajmg.a.61630DOI Listing

Genes that escape from X-chromosome inactivation: Potential contributors to Klinefelter syndrome.

Am J Med Genet C Semin Med Genet 2020 May 22. Epub 2020 May 22.

Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, Vancouver, British Columbia, Canada.

One of the two X chromosomes in females is epigenetically inactivated, thereby compensating for the dosage difference in X-linked genes between XX females and XY males. Not all X-linked genes are completely inactivated, however, with 12% of genes escaping X chromosome inactivation and another 15% of genes varying in their X chromosome inactivation status across individuals, tissues or cells. Expression of these genes from the second and otherwise inactive X chromosome may underlie sex differences between males and females, and feature in many of the symptoms of XXY Klinefelter males, who have both an inactive X and a Y chromosome. Read More

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http://dx.doi.org/10.1002/ajmg.c.31800DOI Listing

Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome.

Am J Med Genet A 2020 May 22. Epub 2020 May 22.

Division of Maternal Fetal Medicine, School of Medicine, The Johns Hopkins University, Baltimore, Maryland, USA.

3MC syndromes are rare heterogeneous autosomal recessive conditions previously designated as Mingarelli, Malpuech, Michels, and Carnevale syndromes, characterized by dysmorphic facial features, facial clefts, growth restriction, and intellectual disability. 3MC is secondary to mutations in the MASP1, MASP3, COLEC11, and COLEC10 genes. The number of patients with 3MC syndrome with known mutations in the COLEC11 or MASP1 is, to date, less than 50. Read More

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http://dx.doi.org/10.1002/ajmg.a.61624DOI Listing

Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?

Am J Med Genet A 2020 May 21. Epub 2020 May 21.

Department of Pediatrics, ASST-Lariana, "Sant'Anna" Hospital, Como, Italy.

Cornelia de Lange spectrum (CdLSp) is a rare genetic condition characterized by intellectual disability, facial dysmorphisms, major malformations, growth impairment, and development delay. Approximately 80% of CdLSp patients have gastroesophageal reflux disease (GERD) with a varied clinical presentation. The aim of this study is to define potential clinical/genetic risk factors based on the clinical phenotype description of CdLSp patients with severe GERD who underwent surgical treatment. Read More

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http://dx.doi.org/10.1002/ajmg.a.61625DOI Listing

The behavioral profile of children aged 1-5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY).

Am J Med Genet C Semin Med Genet 2020 May 20. Epub 2020 May 20.

Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands.

Children with SCT have an increased risk of suboptimal neurodevelopment. Previous studies have shown an elevated risk for neurobehavioral problems in individuals with SCT. However, not much is known about neurobehavioral problems in very young children; knowledge that could help with early identification of children at risk for suboptimal development, and that could help establish targets for early intervention. Read More

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http://dx.doi.org/10.1002/ajmg.c.31788DOI Listing

Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India.

Am J Med Genet A 2020 May 20. Epub 2020 May 20.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Dental anomalies and short stature (DASS) has been recently identified as a distinct entity, associated with bi-allelic hypomorphic variants in LTBP3 gene. Only 20 individuals from nine families have been previously reported, with a consistent phenotype of short stature, brachyolmia, and amelogenesis imperfecta. We report the first case from India, with novel radiographic and molecular findings in LTBP3 gene, thereby expanding the phenotypic spectrum of DASS. Read More

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http://dx.doi.org/10.1002/ajmg.a.61629DOI Listing

Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4.

Am J Med Genet A 2020 May 20. Epub 2020 May 20.

Programa de Pós-Graduação em Ciências Médicas, Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.61620DOI Listing

41,XX * male mice: An animal model for Klinefelter syndrome.

Am J Med Genet C Semin Med Genet 2020 May 20. Epub 2020 May 20.

Institute of Reproductive and Regenerative Biology, Centre of Reproductive Medicine and Andrology, University of Münster, Münster, Germany.

Klinefelter syndrome (KS, 47,XXY) is the most frequent male chromosomal aneuploidy resulting in a highly heterogeneous clinical phenotype associated with hormonal dysbalance, increased rate of co-morbidities, and reduced lifespan. Two hallmarks of KS-affecting testicular functions are consistently observed: Hypergonadotropic hypogonadism and germ cell (GC) loss resulting in infertility. Although KS is being studied for decades, the underlying mechanisms for the observed pathophysiology are still unclear. Read More

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http://dx.doi.org/10.1002/ajmg.c.31796DOI Listing

Love in the time of COVID-19.

Am J Med Genet A 2020 Jun 19;182(6):1299-1301. Epub 2020 May 19.

American College of Medical Genetics and Genomics, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.61623DOI Listing

An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology.

Am J Med Genet A 2020 May 19. Epub 2020 May 19.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.

We report on a 26-year-old male with extreme short stature, microcephaly, macroglossia, other dysmorphic features, severe intellectual disability, and a bone dysplasia. The patient had an extensive genetic and biochemical evaluation that was all normal or noninformative. Recently, the proband died following a period of not eating. Read More

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http://dx.doi.org/10.1002/ajmg.a.61619DOI Listing

Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations.

Am J Med Genet A 2020 May 19. Epub 2020 May 19.

University of Newcastle, Callaghan, New South Wales, Australia.

Intellectual disability (ID) is a complicated and multifactorial condition often with an unclear cause. Advancements in diagnostic techniques have identified genetic causes in a significant proportion. Pathogenic variants in TRIP12, encoding for an E3 ligand in the ubiquitin-protease pathway, have previously been identified as a cause of ID with autistic behavior and dysmorphic features. Read More

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http://dx.doi.org/10.1002/ajmg.a.61618DOI Listing

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.

Am J Med Genet A 2020 May 18. Epub 2020 May 18.

McKusick-Nathans Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.

Variants in MBTPS1 (membrane-bound transcription factor peptidase, site 1) encoding the protein convertase site-1 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal enzymes. Here, we report the second individual with this newly described autosomal recessive spondyloepiphyseal dysplasia (OMIM #618392), presenting severe growth retardation, cataract and dysmorphic features, mainly retromicrognathia. Epilepsy and craniosynostosis were novel findings in our proband. Read More

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http://dx.doi.org/10.1002/ajmg.a.61614DOI Listing

Neuropsychological functions, sleep, and mental health in adults with Klinefelter syndrome.

Am J Med Genet C Semin Med Genet 2020 May 16. Epub 2020 May 16.

Department of Psychology, University of Oslo, Oslo, Norway.

A few studies have examined neuropsychological functions, sleep, and mental health combined in Klinefelter syndrome (KS; 47,XXY). We investigated neuropsychological functions with standard tests, sleep with actigraphy, and self-reported mental health in 30 men with KS (Mean age = 36.7 years) compared to 21 controls (Mean age = 36. Read More

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http://dx.doi.org/10.1002/ajmg.c.31797DOI Listing

Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,XXY Klinefelter syndrome.

Am J Med Genet C Semin Med Genet 2020 May 16. Epub 2020 May 16.

Center for Reproductive Medicine and Andrology/Clinical Andrology, University Clinics Muenster, Muenster, Germany.

Klinefelter syndrome (KS) is the most frequent sex chromosomal aneuploidy. The karyotype 47,XXY originates from either paternal or maternal meiotic nondisjunction during gametogenesis. KS males are very likely to exhibit marked gonadal dysfunctions, presenting both in severely attenuated spermatogenesis as well as hypergonadotropic hypogonadism. Read More

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http://dx.doi.org/10.1002/ajmg.c.31786DOI Listing

Germ cell loss in Klinefelter syndrome: When and why?

Am J Med Genet C Semin Med Genet 2020 May 15. Epub 2020 May 15.

Biology of the Testis (BITE) Laboratory, Department of Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel (VUB), Brussels, Belgium.

Klinefelter syndrome (KS) is a quite common disorder with an incidence of 1-2 in 1,000 new-born males. Most patients are diagnosed in the light of a clinical checkup when consulting a fertility clinic with an unfulfilled child wish. Infertility in KS patients is caused by a massive germ cell loss, leading to azoospermia in more than 90% of the adult patients. Read More

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http://dx.doi.org/10.1002/ajmg.c.31787DOI Listing

Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1.

Am J Med Genet A 2020 May 15. Epub 2020 May 15.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

Shwachman-Diamond syndrome characterized by metaphyseal dysplasia, pancreatic insufficiency, and pancytopenia is caused by biallelic mutations in SBDS. Gene conversion between SBDS and its pseudogene SBDSP1 is the major cause. Here, we report two unrelated patients with Shwachman-Diamond syndrome who were shown to be compound heterozygotes for relatively frequent pathogenic alleles (the 258+2T>C allele and another allele composed of 183-184TA>CT and 201A>G) using an established polymerase chain reaction sequencing assay with SBDS-specific primers. Read More

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http://dx.doi.org/10.1002/ajmg.a.61598DOI Listing

SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder.

Am J Med Genet A 2020 May 15. Epub 2020 May 15.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61616DOI Listing

Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa).

Am J Med Genet A 2020 May 14. Epub 2020 May 14.

Center for Human Genetics, University of Kinshasa, Kinshasa, Congo.

Sotos syndrome is a widely studied overgrowth syndrome. Clinical presentation includes excessive growth during childhood, macrocephaly, learning difficulties of various degrees, variable minor features, and distinctive facial gestalt. We provide in this report the first phenotypic and growth description of Sotos syndrome in a patient from Central Africa. Read More

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http://dx.doi.org/10.1002/ajmg.a.61617DOI Listing
May 2020
2.159 Impact Factor

Sodium hydrogen exchanger 9 NHE9 (SLC9A9) and its emerging roles in neuropsychiatric comorbidity.

Am J Med Genet B Neuropsychiatr Genet 2020 May 13. Epub 2020 May 13.

Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, New York, USA.

Variations in SLC9A9 gene expression and protein function are associated with multiple human diseases, which range from Attention-deficit/hyperactivity disorder (ADHD) to glioblastoma multiforme. In an effort to determine the full spectrum of human disease associations with SLC9A9, we performed a systematic review of the literature. We also review SLC9A9's biochemistry, protein structure, and function, as well as its interacting partners with the goal of identifying mechanisms of disease and druggable targets. Read More

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http://dx.doi.org/10.1002/ajmg.b.32787DOI Listing

Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.

Am J Med Genet B Neuropsychiatr Genet 2020 May 6. Epub 2020 May 6.

Centre for Addiction and Mental Health, The Hospital for Sick Children & University of Toronto, Toronto, Ontario, Canada.

Autism spectrum disorder (ASD) is a relatively common childhood onset neurodevelopmental disorder with a complex genetic etiology. While progress has been made in identifying the de novo mutational landscape of ASD, the genetic factors that underpin the ASD's tendency to run in families are not well understood. In this study, nine extended pedigrees each with three or more individuals with ASD, and others with a lesser autism phenotype, were phenotyped and genotyped in an attempt to identify heritable copy number variants (CNVs). Read More

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http://dx.doi.org/10.1002/ajmg.b.32785DOI Listing

Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes.

Am J Med Genet A 2020 May 5. Epub 2020 May 5.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

The utility of whole exome analysis has been extensively demonstrated in research settings, but its clinical utility as a first-tier genetic test has not been well documented from diagnostic and health economic standpoints in real-life clinical settings. We performed medical exome analyses focusing on a clinically interpretable portion of the genome (4,813 genes) as a first-tier genetic test for 360 consecutive patients visiting a genetics clinic at a tertiary children's hospital in Japan, over a 3-year period. Bioinformatics analyses were conducted using standard software. Read More

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http://dx.doi.org/10.1002/ajmg.a.61589DOI Listing

KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.

Am J Med Genet A 2020 May 5. Epub 2020 May 5.

Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.

Vertebral malformations (VMs) are caused by alterations in somitogenesis and may occur in association with other congenital anomalies. The genetic etiology of most VMs remains unknown and their identification may facilitate the development of novel therapeutic and prevention strategies. Exome sequencing was performed on both the discovery cohort of nine unrelated probands from the USA with VMs and the replication cohort from China (Deciphering Disorders Involving Scoliosis & COmorbidities study). Read More

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http://dx.doi.org/10.1002/ajmg.a.61607DOI Listing

Psychosocial implications of living with familial risk of a psychiatric disorder and attitudes to psychiatric genetic testing: A systematic review of the literature.

Am J Med Genet B Neuropsychiatr Genet 2020 May 5. Epub 2020 May 5.

Psychosocial Research Group, Prince of Wales Clinical School, University of New South Wales Sydney, Sydney, Australia.

The aim of this systematic review was to synthesize the existing evidence documenting the psychosocial implications of living with a familial risk of an adult-onset psychiatric disorder. Six databases were searched systematically to identify qualitative and quantitative studies, which explored perspectives of those at increased risk for psychiatric disorders, as well as the general public. Thematic analysis was used to identify major themes. Read More

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http://dx.doi.org/10.1002/ajmg.b.32786DOI Listing

A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.

Am J Med Genet A 2020 May 2. Epub 2020 May 2.

Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

A rare developmental delay (DD)/intellectual disability (ID) syndrome with craniofacial dysmorphisms and autistic features, termed White-Sutton syndrome (WHSUS, MIM#614787), has been recently described, identifying truncating mutations in the chromatin regulator POGZ (KIAA0461, MIM#614787). We describe a further WHSUS patient harboring a novel nonsense de novo POGZ variant, which afflicts a protein domain with transposase activity less frequently impacted by mutational events (DDE domain). This patient displays additional physical and behavioral features, these latter mimicking Smith-Magenis syndrome (SMS, MIM#182290). Read More

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http://dx.doi.org/10.1002/ajmg.a.61605DOI Listing

Maternal and paternal effects on offspring internalizing problems: Results from genetic and family-based analyses.

Am J Med Genet B Neuropsychiatr Genet 2020 May 1. Epub 2020 May 1.

Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

It is unclear to what extent parental influences on the development of internalizing problems in offspring are explained by indirect genetic effects, reflected in the environment provided by the parent, in addition to the genes transmitted from parent to child. In this study, these effects were investigated using two innovative methods in a large birth cohort. Using maternal-effects genome complex trait analysis (M-GCTA), the effects of offspring genotype, maternal or paternal genotypes, and their covariance on offspring internalizing problems were estimated in 3,801 mother-father-child genotyped trios. Read More

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http://dx.doi.org/10.1002/ajmg.b.32784DOI Listing

Aortic arch geometry predicts outcome in patients with Loeys-Dietz syndrome independent of the causative gene.

Am J Med Genet A 2020 Apr 30. Epub 2020 Apr 30.

Pediatric Cardiology and GUCH Unit, S.Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.

This study aimed to investigate the potential association between imaging features and cardiovascular outcomes in patients with Loeys-Dietz syndrome (LDS). We performed a retrospective cohort study of 36 patients with LDS and described cardiovascular events and imaging data. We observed different clinical courses in patients with LDS, irrespective of the causative gene. Read More

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http://dx.doi.org/10.1002/ajmg.a.61608DOI Listing

The Society for Craniofacial Genetics and Developmental Biology 42nd Annual Meeting.

Am J Med Genet A 2020 Apr 30. Epub 2020 Apr 30.

Department of Anatomy and Cell Biology, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, USA.

The Society for Craniofacial Genetics and Developmental Biology (SCGDB) 42nd Annual Meeting was held at the MD Anderson Cancer Center in Houston, Texas from October 14-15, 2019. The SCGDB meeting included scientific sessions on the molecular regulation of craniofacial development, cell biology of craniofacial development, signaling during craniofacial development, translational craniofacial biology, and for the first time, a career development workshop. Over a one hundred attendees from 21 states, and representing over 50 different scientific institutions, participated. Read More

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http://dx.doi.org/10.1002/ajmg.a.61602DOI Listing

Eye tracking as an objective measure of hyperphagia in children with Prader-Willi syndrome.

Am J Med Genet A 2020 Apr 28. Epub 2020 Apr 28.

Case Western Reserve University, Cleveland, Ohio.

This study examined sensitivity of eye tracking measures to hyperphagia severity in Prader-Willi syndrome (PWS). Gaze data were collected in 57 children with PWS, age 3-11 years, and 47 typically developing peers at two study sites during free visual exploration of complex stimulus arrays that included images of food, animals, and household objects. Analysis of the number and duration of fixations as well as gaze perseverations revealed that food items are not exceptionally salient for children with PWS. Read More

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http://dx.doi.org/10.1002/ajmg.a.61606DOI Listing

Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II.

Am J Med Genet A 2020 Apr 27. Epub 2020 Apr 27.

Department of Gynecology and Obstetrics, Johns Hopkins Hospital, Baltimore, Maryland, USA.

Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. Many of these conditions are of public health importance with the potential to develop screening recommendations to improve clinical care for this population. Our workgroup previously identified and prioritized co-occurring medical conditions in adults with DS. Read More

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http://dx.doi.org/10.1002/ajmg.a.61604DOI Listing

Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly.

Am J Med Genet A 2020 Apr 24. Epub 2020 Apr 24.

Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.61592DOI Listing

Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.

Am J Med Genet A 2020 Apr 23. Epub 2020 Apr 23.

Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center and Children's Hospital, New Orleans, Louisiana, USA.

Basel-Vanagaite-Smirin-Yosef syndrome is a recently described autosomal recessive intellectual disability syndrome caused by variants in the MED25 gene. While it was originally identified in Brazil, it was further described in Israel by authors who are now the namesake of the condition. A 2018 publication further contributed to its delineation, but the patient's phenotype was complicated by a dual diagnosis. Read More

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http://dx.doi.org/10.1002/ajmg.a.61603DOI Listing

Medical genetics education in the midst of the COVID-19 pandemic: Shared resources.

Am J Med Genet A 2020 Jun 23;182(6):1302-1308. Epub 2020 Apr 23.

Department of Medical Genetics, Stanford University School of Medicine, Stanford, California, United States.

In the midst of the COVID-19 pandemic, it is appropriate that our focus is on patient care and preparation. However, the genetics community is well poised to fill in the educational gap created by medical students transitioning to limiting patient contact, creation of telemedicine patient care, and online learning modules. Our history of agility in learning and teaching is now only inhibited by the time constraints of current clinical demands on the genetics community. Read More

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http://dx.doi.org/10.1002/ajmg.a.61595DOI Listing

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.

Am J Med Genet A 2020 Jun 22;182(6):1342-1350. Epub 2020 Apr 22.

Pediatric Cardiology and Cardiac Arrhythmias Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Morbidity and mortality in Down syndrome (DS) are mainly related to congenital heart defects (CHDs). While CHDs with high prevalence in DS (typical CHDs), such as endocardial cushion defects, have been extensively described, little is known about the impact of less common CHDs (atypical CHDs), such as aortic coarctation and univentricular hearts. In our single-center study, we analyzed, in observational, retrospective manner, data regarding cardiac features, surgical management, and outcomes of a cohort of DS patients. Read More

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http://dx.doi.org/10.1002/ajmg.a.61586DOI Listing

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.

Am J Med Genet A 2020 Apr 22. Epub 2020 Apr 22.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

4H leukodystrophy, also known as Pol III-related leukodystrophy, is a rare autosomal recessive neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. It is caused by biallelic mutations in POLR3A, POL3RB, or POLR1C. So far, only two patients have been described with homozygosity for the common c. Read More

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http://dx.doi.org/10.1002/ajmg.a.61600DOI Listing

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.

Am J Med Genet A 2020 Apr 22. Epub 2020 Apr 22.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

With advances in genetic testing and improved access to such advances, whole exome sequencing is becoming a first-line investigation in clinical work-up of children with developmental delay/intellectual disability (ID). As a result, the need to understand the importance of genetic variants and its effect on the clinical phenotype is increasing. Here, we report on the largest cohort of patients with HNRNPU variants. Read More

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http://dx.doi.org/10.1002/ajmg.a.61599DOI Listing

Neural and behavioral measures suggest that cognitive and affective functioning interactions mediate risk for psychosis-proneness symptoms in youth with chromosome 22q11.2 deletion syndrome.

Am J Med Genet A 2020 Apr 22. Epub 2020 Apr 22.

Department of Psychiatry and Behavioral Sciences, School of Medicine, University of California, Davis, Sacramento, California, USA.

Behavioral components of chromosome 22q11.2 deletion syndrome (22q), caused by the most common human microdeletion, include cognitive and adaptive functioning impairments, heightened anxiety, and an elevated risk of schizophrenia. We investigated how interactions between executive function and the largely overlooked factor of emotion regulation might relate to the incidence of symptoms of psychotic thinking in youth with 22q. Read More

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http://dx.doi.org/10.1002/ajmg.a.61596DOI Listing

High Polygenic Risk Scores Associated with Autism Spectrum Disorder.

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Am J Med Genet A 2020 May;182(5):949-950

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http://dx.doi.org/10.1002/ajmg.a.61232DOI Listing

Insurers Reluctant to Cover Prenatal Exome Sequencing.

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Am J Med Genet A 2020 May;182(5):950-951

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http://dx.doi.org/10.1002/ajmg.a.61563DOI Listing

Increased T-cell counts in patients with 22q11.2 deletion syndrome who have anxiety.

Am J Med Genet A 2020 Apr 17. Epub 2020 Apr 17.

Division of Allergy Immunology, The Children's Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.

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http://dx.doi.org/10.1002/ajmg.a.61588DOI Listing