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https://www.readbyqxmd.com/read/28231563/hypoxia-pathway-mutations-in-pheochromocytomas-and-paragangliomas
#1
Diana Amorim-Pires, Joana Peixoto, Jorge Lima
Pheochromocytomas (PCC) and sympathetic paragangliomas (PGL) are rare neuroendocrine tumors, which derive from chromaffin cells occurring in the adrenal medulla and extra-adrenal sympathetic paraganglia. PCC and PGL are often benign, catecholamine-producing tumors, responsible for a myriad of symptoms that may be potentially hazardous to the patient. In contrast, nonsecreting parasympathetic PGL, derived from chief cells, develop mainly in the head and neck region. Although PCC/PGL are more commonly sporadic tumors, germline mutations are present in up to 40% of the patients, ranking these tumors among those with the highest degree of heritability...
February 24, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28231309/improving-molecular-diagnosis-of-aniridia-and-wagr-syndrome-using-customized-targeted-array-based-cgh
#2
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus...
2017: PloS One
https://www.readbyqxmd.com/read/28230898/manifestations-and-medicolegal-significance-of-loeys-dietz-syndrome
#3
Roger W Byard
Loeys-Dietz syndrome is a recently described autosomal dominant disorder with underlying vasculopathy characterized by aortic and other vascular aneurysmal dissection/rupture. A 61-year-old man is reported who died suddenly and unexpectedly and at autopsy was found to have a ruptured abdominal aortic aneurysm. Additional findings included dolichostenomelia, high-arched palate, and pectus excavatum. There was a strong family history of Loeys-Dietz syndrome, although the decedent had never been tested. Death was, therefore, due to a ruptured abdominal aortic aneurysm in a case of probable Loeys-Dietz syndrome...
February 23, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28230711/asperger-syndrome-and-early-onset-schizophrenia-associated-with-a-novel-mecp2-deleterious-missense-variant
#4
Aurore Curie, Gaëtan Lesca, Gérald Bussy, Sabine Manificat, Valérie Arnaud, Sibylle Gonzalez, Olivier Revol, Alain Calender, Daniel Gérard, Vincent des Portes
Methyl-CpG-binding protein 2 (MECP2) deleterious variants, which are responsible for Rett syndrome in girls, are involved in a wide spectrum of developmental disabilities in males. A neuropsychiatric phenotype without intellectual disability is uncommon in patients with MECP2 deleterious variants. We report on two dizygotic twins with an MECP2-related psychiatric disorder without intellectual disability. Neuropsychological and psychiatric phenotype assessments were performed, and a genetic analysis was carried out...
February 22, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28230630/update-on-the-22q11-2-deletion-syndrome-and-its-relevance-to-schizophrenia
#5
Lily Van, Erik Boot, Anne S Bassett
PURPOSE OF REVIEW: Schizophrenia occurs in ∼25% of individuals with 22q11.2 deletion syndrome (22q11.2DS), the strongest known molecular genetic risk factor for schizophrenia. This review highlights recent literature in 22q11.2DS as it pertains to psychosis and schizophrenia. RECENT FINDINGS: Advances in noninvasive prenatal testing allow for early detection of 22q11.2DS in utero, whereas premature birth has been shown to be a significant risk factor for development of psychotic illness in 22q11...
February 21, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/28230601/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome
#6
Siyuan Guo, Renji Chen, Yi Xu, Yue Mu, Linfeng Chen
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is an autosomal genetic disease with the main features of ankyloblepharon filiforme adnatum, ectodermal defects, and cleft lip/palate. The authors report a patient with 17 months old girl with AEC syndrome having ankyloblepharon, cleft and palate, and ectrodactyly with some associated features. Etiology, clinical features, differential diagnosis, and treatment have been elaborated in this clinical report.
February 22, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28230293/influence-of-complex-childhood-diseases-on-variation-in-growth-and-skeletal-development
#7
REVIEW
Babette S Zemel
The study of human growth and skeletal development by human biologists is framed by the larger theoretical concerns regarding the underpinnings of population variation and human evolution. This unique perspective is directly relevant to the assessment of child health and well-being at the individual and group level, as well as the construction of growth charts. Environmental, behavioral (nutrition and physical activity), and disease-related factors can prevent attainment of full genetic potential for growth...
February 23, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28230102/identification-of-a-new-virulent-clade-in-enterohemorrhagic-escherichia-coli-o26-h11-h-sequence-type-29
#8
Nozomi Ishijima, Ken-Ichi Lee, Tomomi Kuwahara, Haruyuki Nakayama-Imaohji, Saori Yoneda, Atsushi Iguchi, Yoshitoshi Ogura, Tetsuya Hayashi, Makoto Ohnishi, Sunao Iyoda
Enterohemorrhagic Escherichia coli (EHEC) O26 infections cause severe human diseases such as hemolytic uremic syndrome and encephalopathy, and is the predominant serogroup among non-O157 EHEC in many countries. Shiga toxin (Stx), which consists of two distinct types (Stx1 and Stx2), plays a central role in EHEC pathogenesis. The major stx gene type in EHEC O26 strains is stx1, although isolates with only stx2 have emerged in Japan since 2012 and have been reported in Europe. In this study, we selected 27 EHEC O26 strains isolated in Japan and identified a distinct genetic clade within sequence type (ST) 29, designated ST29C1, that carried only stx2 and had the plasmid gene profile ehxA+/katP-/espP+/etpD-...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28229991/a-novel-mutation-in-the-pyrin-domain-of-the-nod-like-receptor-family-pyrin-domain-containing-protein-3-in-muckle-wells-syndrome
#9
Jian Hu, Yun Zhu, Jian-Zhong Zhang, Rong-Guang Zhang, Hou-Min Li
BACKGROUND: Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by interleukin (IL)-1β-mediated systemic inflammation and clinical symptoms involving skin, joints, central nervous system, and eyes. It encompasses a spectrum of three clinically overlapping autoinflammatory syndromes including familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease. CAPS is associated with gain-of-function missense mutations in NOD-like receptor family pyrin domain-containing protein 3 (NLRP3), the gene encoding NLRP3...
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28229899/genetic-testing-helps-to-confirm-the-diagnosis-and-initiate-appropriate-treatment-a-case-of-liddle%C3%A2-syndrome
#10
EDITORIAL
Pavel N Pichurin, Garry L Schwartz
No abstract text is available yet for this article.
January 25, 2017: Journal of the American Society of Hypertension: JASH
https://www.readbyqxmd.com/read/28229533/expansion-of-myeloid-derived-suppressor-cells-with-aging-in-the-bone-marrow-of-mice-through-a-nf-%C3%AE%C2%BAb-dependent-mechanism
#11
Rafael R Flores, Cheryl L Clauson, Joonseok Cho, Byeong-Chel Lee, Sara J McGowan, Darren J Baker, Laura J Niedernhofer, Paul D Robbins
With aging, there is progressive loss of tissue homeostasis and functional reserve, leading to an impaired response to stress and an increased risk of morbidity and mortality. A key mediator of the cellular response to damage and stress is the transcription factor NF-κB. We demonstrated previously that NF-κB transcriptional activity is upregulated in tissues from both natural aged mice and in a mouse model of a human progeroid syndrome caused by defective repair of DNA damage (ERCC1-deficient mice). We also demonstrated that genetic reduction in the level of the NF-κB subunit p65(RelA) in the Ercc1(-/∆) progeroid mouse model of accelerated aging delayed the onset of age-related pathology including muscle wasting, osteoporosis, and intervertebral disk degeneration...
February 23, 2017: Aging Cell
https://www.readbyqxmd.com/read/28229513/pathogenic-asxl1-somatic-variants-in-reference-databases-complicate-germline-variant-interpretation-for-bohring-opitz-syndrome
#12
Colleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, Beryl B Cummings, Ben Weisburd, Eric V Minikel, Daniel P Birnbaum, Tatiana Tvrdik, Daniel G MacArthur, Rong Mao
The clinical interpretation of genetic variants has come to rely heavily on reference population databases such as the Exome Aggregation Consortium (ExAC) database. Pathogenic variants in genes associated with severe, pediatric-onset, highly penetrant, autosomal dominant conditions are assumed to be absent or rare in these databases. Exome sequencing of a six-year-old female patient with seizures, developmental delay, dysmorphic features and failure to thrive identified an ASXL1 variant previously reported as causative of Bohring-Opitz syndrome (BOS)...
February 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28229507/a-samhd1-mutation-associated-with-aicardi-gouti%C3%A3-res-syndrome-uncouples-the-ability-of-samhd1-to-restrict-hiv-1-from-its-ability-to-downmodulate-type-i-interferon-in-humans
#13
Tommy E White, Alberto Brandariz-Nuñez, Alicia Martinez-Lopez, Caitlin Knowlton, Gina Lenzi, Baek Kim, Dmitri Ivanov, Felipe Diaz-Griffero
Mutations in the human SAMHD1 gene are known to correlate with the development of the Aicardi-Goutières Syndrome (AGS), which is an inflammatory encephalopathy that exhibits neurological dysfunction characterized by increased production of type I interferon (IFN); this evidence has lead to the concept that the SAMHD1 protein negatively regulates the type I IFN response. Additionally, the SAMHD1 protein has been shown to prevent efficient HIV-1 infection of macrophages, dendritic cells and resting CD4+ T cells...
February 22, 2017: Human Mutation
https://www.readbyqxmd.com/read/28229394/epileptic-encephalopathies-clinical-syndromes-and-pathophysiological-concepts
#14
REVIEW
Markus von Deimling, Ingo Helbig, Eric D Marsh
Epileptic encephalopathies account for a large proportion of the intractable early-onset epilepsies and are characterized by frequent seizures and poor developmental outcome. The epileptic encephalopathies can be loosely divided into two related groups of named syndromes. The first comprises epilepsies where continuous EEG changes directly result in cognitive and developmental dysfunction. The second includes patients where cognitive impairment is present at seizure onset and is due to the underlying etiology but the epileptic activity may then worsen the cognitive abilities over time...
February 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28229087/modeling-williams-syndrome-with-induced-pluripotent-stem-cells
#15
Thanathom Chailangkarn, Alysson R Muotri
The development of induced pluripotent stem cells (iPSCs) like never before has opened novel opportunity to study diseases in relevant cell types. In our recent study, Williams syndrome (WS), a rare genetic neurodevelopmental disorder, that is caused by hemizygous deletion of 25-28 genes on chromosome 7, is of interest because of its unique cognitive and social profiles. Little is known about haploinsufficiency effect of those deleted genes on molecular and cellular phenotypes at the neural level due to the lack of relevant human cellular model...
2017: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/28229064/abnormal-auditory-brainstem-response-abr-findings-in-a-near-normal-hearing-child-with-noonan-syndrome
#16
Bahram Jalaei, Mohd Normani Zakaria, Dinsuhaimi Sidek
INTRODUCTION: Noonan syndrome (NS) is a heterogeneous genetic disease that affects many parts of the body. It was named after Dr. Jacqueline Anne Noonan, a paediatric cardiologist. CASE REPORT: We report audiological tests and auditory brainstem response (ABR) findings in a 5-year old Malay boy with NS. Despite showing the marked signs of NS, the child could only produce a few meaningful words. Audiological tests found him to have bilateral mild conductive hearing loss at low frequencies...
January 2017: Iranian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28228833/disruption-of-the-photoreceptor-inner-segment-outer-segment-junction-in-a-6-year-old-girl-with-joubert-syndrome
#17
Shimpei Baba, Eri Takeshita, Hiroko Yamazaki, Mikako Tarashima, Masayuki Sasaki
Joubert syndrome (JS) is a spectrum of genetic disorders characterised by cerebellar and brainstem malformation called "molar tooth sign", resulting in hypotonia, developmental delay, and intellectual disability. Here we describe a young female JS patient with "salt-and-pepper" fundus and inner segment-outer segment junction (IS/OS line) discontinuity, with a lack of external limiting membrane. Ocular coherence tomography (OCT) detected blurred external retinal layers in the macula centre. Although JS patients often have retinal degeneration with varying severity, few investigators have utilised OCT in their investigations...
February 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28228640/autosomal-dominant-cutis-laxa-with-progeroid-features-due-to-a-novel-de-novo-mutation-in-aldh18a1
#18
Priya T Bhola, Taila Hartley, Eric Bareke, Kym M Boycott, Sarah M Nikkel, David A Dyment
De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). To date, all de novo dominant mutations have been found in a single highly conserved amino acid residue at position p.Arg138. We report an 8-year-old male with a clinical diagnosis of autosomal dominant cutis laxa (ADCL) with progeroid features and a novel de novo missense mutation in ALDH18A1 (NM_002860.3: c.377G>A (p...
February 23, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28226328/a-de-novo-pericentric-inversion-in-chromosome-4-associated-with-disruption-of-pitx2-and-a-microdeletion-in-4p15-2-in-a-patient-with-axenfeld-rieger-syndrome-and-developmental-delay
#19
Živilė Maldžienė, Eglė Preikšaitienė, Salomėja Ignotienė, Natalija Kapitanova, Algirdas Utkus, Vaidutis Kučinskas
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to a de novo apparently balanced pericentric inversion in chromosome 4. This report emphasizes that complementary investigations are necessary to precisely characterize chromosomal rearrangements...
February 23, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28226326/psoriasis-and-obesity
#20
Peter Jensen, Lone Skov
Psoriasis is a common chronic inflammatory skin disease with a complex pathogenesis consisting of a genetic component, immune dysfunction, and environmental factors. It is associated with numerous comorbidities including psoriatic arthritis, cardiovascular disease, metabolic syndrome, and obesity. Evidence suggests that obesity is a risk factor for incident psoriasis, aggravates existing psoriasis, and that weight reduction may improve the severity of psoriasis in overweight individuals. Excess body weight may interfere with the medical treatment used in psoriasis and adds to the cardiovascular risk profile in these patients, which underscores the importance of effective weight control regimens...
February 23, 2017: Dermatology: International Journal for Clinical and Investigative Dermatology
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