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Molecular Syndromology

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https://www.readbyqxmd.com/read/30181735/a-new-case-of-a-rare-combination-of-temple-syndrome-and-mosaic-trisomy-14-and-a-literature-review
#1
Maria Yakoreva, Tiina Kahre, Sander Pajusalu, Piret Ilisson, Olga Žilina, Vallo Tillmann, Tiia Reimand, Katrin Õunap
Temple syndrome (TS14) is a relatively recently discovered imprinting disorder caused by abnormal expression of genes at the locus 14q32. The underlying cause of this syndrome is maternal uniparental disomy of chromosome 14 (UPD(14)mat). Trisomy of chromosome 14 is one of the autosomal trisomies; in humans, it is only compatible with live birth in mosaic form. Although UPD(14)mat and mosaic trisomy 14 can arise from the same cellular mechanism, a combination of both has been currently reported only in 8 live-born cases...
July 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/30158844/two-consecutive-pregnancies-with-simpson-golabi-behmel-syndrome-type-1-case-report-and-review-of-published-prenatal-cases
#2
Konstantin Ridnõi, Elvira Kurvinen, Sander Pajusalu, Tiia Reimand, Katrin Õunap
Fetal overgrowth and numerous congenital malformations can be detected in every trimester of pregnancy. New technologies in molecular testing, such as chromosomal microarray analysis and next-generation sequencing, continually demonstrate advantages for definitive diagnosis in fetal life. Simpson-Golabi-Behmel (SGB) syndrome is a rare but well-known overgrowth condition that is rarely diagnosed in the prenatal setting. We report 3 cases of SGB syndrome in 2 consecutive pregnancies. In our series, distinctive prenatal sonographic findings led to molecular diagnosis...
July 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/30140199/cardiac-fibroma-with-ventricular-tachycardia-an-unusual-clinical-presentation-of-nevoid-basal-cell-carcinoma-syndrome
#3
Alyssa L Ritter, Eric J Granquist, V Ramesh Iyer, Kosuke Izumi
Pediatric cardiac tumors are rare and often benign with an incidence of approximately 0.03-0.32% and can be associated with genetic conditions. For example, approximately 3% of individuals with nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, have a cardiac fibroma. NBCCS is also characterized by lamellar or early calcification of the falx, jaw keratocysts, palmar and/or plantar pits, and a predisposition for basal cell carcinomas. Given the management implications of NBCCS, including appropriate cancer screenings and precautions, prompt identification of affected individuals is critical...
July 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/30140198/biallelic-wrn-mutations-in-newly-identified-japanese-werner-syndrome-patients
#4
Yoshiro Maezawa, Hisaya Kato, Minoru Takemoto, Aki Watanabe, Masaya Koshizaka, Takahiro Ishikawa, Forough Sargolzaeiaval, Masafumi Kuzuya, Hiroshi Wakabayashi, Takashi Kusaka, Koutaro Yokote, Junko Oshima
Werner syndrome (WS) is a rare autosomal recessive disorder characterized by systemic accelerated aging. It is caused by pathogenic variants of the WRN gene that encodes a nuclear helicase. In this report, we describe 4 newly identified WS cases among those referred to the Japanese Werner Consortium, Chiba University, Japan. All 4 cases were compound heterozygotes of the Japanese founder mutation, c.3139-1G>C, and a novel null pathogenic variant, c.1587G>A, c.2448+1G>A, or c.3233+1G>T, or an amino acid substitution variant, c...
July 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/30140197/a-pure-2-mb-3q26-2-duplication-proximal-to-the-critical-region-of-3q-duplication-syndrome
#5
Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, Fabíola Paoli Monteiro, Vera L Gil-da-Silva-Lopes
Partial duplication of chromosome 3q - dup(3q) - is a recognizable syndrome with dysmorphic facial features, microcephaly, digital anomalies, and genitourinary and cardiac defects, as well as growth retardation and developmental delay. Most cases of dup(3q) result from unbalanced translocations or inversions and are accompanied by additional chromosomal imbalances. Pure dup(3q) is rare, and only 31 cases have been reported so far. We report a new case of a girl with a pure 2-Mb duplication at 3q26.2 not encompassing the known critical region 3q26...
July 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/30140196/severe-phenotype-of-cutis-laxa-type-1b-with-antenatal-signs-due-to-a-novel-homozygous-nonsense-mutation-in-efemp2
#6
Pascaline Letard, Dorien Schepers, Juliette Albuisson, Patrick Bruneval, Emmanuel Spaggiari, Gerarda Van de Beek, Suonavy Khung-Savatovsky, Nadia Belarbi, Yline Capri, Anne-Lise Delezoide, Bart Loeys, Fabien Guimiot
EFEMP2 mutations are known to be responsible for autosomal recessive cutis laxa type 1B (ARCL1B), a rare multisystem disease affecting skin, skeleton, and vascular structures. We report 2 additional related cases of ARCL1B of particular severity leading to termination of pregnancy. Cardinal signs of this connective tissue disease were already seen during the second trimester of pregnancy, then confirmed and clarified at autopsy. Anomalies included cutis laxa, arachnodactyly, clubfoot, wormian bones, moderate bowing of long bones with slender bone trabeculae, rib fractures, undermuscularized diaphragm, hiatal hernia, and arterial tortuosity with thick vascular walls and disorganized elastic fibers...
July 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/30140195/a-new-3p14-2-microdeletion-in-a-patient-with-intellectual-disability-and-language-impairment-case-report-and-review-of-the-literature
#7
Giulia Parmeggiani, Barbara Buldrini, Sergio Fini, Alessandra Ferlini, Stefania Bigoni
Interstitial deletions of chromosome 3p are rare, and specific genotype-phenotype correlations cannot always be assessed. We report the case of a 3p14.2 proximal microdeletion in a 60-year-old female patient with mild intellectual disability, severe speech delay, and mild dysmorphism. An array-CGH analysis detected a 500-kb deletion in the 3p14.2 region, including FEZF2 , CADPS , and PTPRG . FEZF2 and CADPS are known to network within the neurodevelopmental pathways. It is possible that their rearrangements lead to the phenotypic features observed in the patient, and therefore, they can be considered candidate genes responsible for such abnormalities...
July 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/30140194/syndromes-hidden-within-the-16p11-2-deletion-region
#8
Martin Poot
No abstract text is available yet for this article.
July 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29928183/identification-of-a-new-candidate-locus-for-ebstein-anomaly-in-1p36-2
#9
Marta-Catalina Miranda-Fernández, Silvia Ramírez-Oyaga, Carlos M Restrepo, Victor-Manuel Huertas-Quiñones, Magally Barrera-Castañeda, Rossi Quero, Camilo-José Hernández-Toro, Claudia Tamar Silva, Paul Laissue, Rodrigo Cabrera
Ebstein anomaly (EA) is a rare congenital heart defect (CHD) with a poorly characterized genetic etiology. However, some EA patients carry deletions in 1p36, all of which have been reported to carry distal deletions and share loss of the PRDM16 gene, which is currently considered the most likely candidate for EA development in this region. Here, we report a patient with an 11.96-Mb proximal 1p36 deletion, without loss of PRDM16 , who presented with EA and a proximal deletion phenotype. This finding suggests that PRDM16 loss is not required for the development of EA in 1p36 deletions and that the loss of an additional proximal locus in 1p36 is also likely associated with EA...
May 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29928182/a-novel-mgp-gene-mutation-causing-keutel-syndrome-in-a-brazilian-patient
#10
Eduardo Perrone, Kelin Chen, Marco Ramos, Maria Fernanda Milanezi, Viviane Nakano, Ariane Falconi, Juliana Silva, Jamille Campos, Celia M C Silva, Joao B O Filho, Ana B A Perez
Keutel syndrome is caused by mutations in the matrix gamma-carboxyglutamic acid ( MGP ) gene (OMIM 154870) and is inherited in an autosomal recessive fashion. It is characterized by brachydactyly, pulmonary artery stenosis, a distinctive facial phenotype, and cartilage calcification. To date, only 36 cases have been reported worldwide. We describe clinical and molecular findings of the first Brazilian patient with Keutel syndrome. Keutel syndrome was suspected based on clinical and morphological evaluation, so we sequenced the MGP gene using the TruSight One Sequencing Panel (Illumina)...
May 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29928181/desanto-shinawi-syndrome-first-case-in-south-america
#11
Sara Vanegas, Diana Ramirez-Montaño, Estephania Candelo, Marwan Shinawi, Harry Pachajoa
Pathogenic variants in WAC are uncommon causes of developmental delay and neurobehavioral phenotypes. The clinical features associated with WAC haploinsufficiency include recognizable dysmorphic facial features that were recently delineated as DeSanto-Shinawi syndrome (DESSH; OMIM 616708). Additional clinical features include hypotonia, hearing and vision abnormalities, gastrointestinal problems, and behavioral difficulties. Here, we report a case of a 4-year-old Colombian male patient with typical dysmorphic facial features, developmental delay, hyperactivity, and recurrent respiratory infections...
May 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29928180/atypical-skin-manifestations-in-fgfr2-related-craniosynostosis-syndromes-broaden-the-phenotypic-spectrum
#12
Shannon LeBlanc, David David, Alison Colley, Michael Buckley, Tony Roscioli, Christopher Barnett
Crouzon syndrome (CS) and Beare-Stevenson syndrome (BSS) are craniosynostosis syndromes caused by mutations in the fibroblast growth factor 2 ( FGFR2 ) gene. CS is more common (1 in 60,000 live births) than BSS, where fewer than 20 individuals have been reported. The cardinal features of BSS are craniosynostosis, cutis gyrata, acanthosis nigricans, skin furrows, skin tags, anogenital anomalies, and a prominent umbilical stump. Previously described individuals with BSS have typically had mutations in exon 11 of FGFR2 ...
May 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29928179/necrotizing-enterocolitis-in-two-siblings-and-an-unrelated-infant-with-overlapping-chromosome-6q25-deletions
#13
Hannah C D Esdal, Muhammad B Ghbeis, Daniel A Saltzman, Donavon Hess, Janet R Hume, Robyn C Reed, Susan A Berry, Eric Hoggard, Betsy Hirsch, Linda B Baughn, Lisa A Schimmenti
The pathogenesis of necrotizing enterocolitis (NEC) remains poorly understood but is thought to be multifactorial. There are no specific recurring chromosomal abnormalities previously associated with NEC. We report 3 cases of intestinal necrosis associated with large chromosome 6 deletions. The first patient was found to have a 7.9-Mb deletion of chromosome 6 encompassing over 40 genes, arr[GRCh37] 6q25.3q26(155699183_163554531)×1. The second patient had a 19.5-Mb deletion of chromosome 6 generated by an unbalanced translocation with chromosome 18, 46,XY,der(6)t (6;18)(q25...
May 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29928178/longitudinal-follow-up-of-two-patients-with-dysspondyloenchondromatosis-due-to-novel-heterozygous-mutations-in-col2a1
#14
Nilay Güneş, Gözde Yeşil, Kubilay Beng, Sinan Kahraman, Beyhan Tüysüz
Dysspondyloenchondromatosis (DSC) is a rare form of generalized enchondromatosis and characterized by short stature with unequal limb length, multiple enchondromas in metaphyseal and diaphyseal parts of the long tubular bones, and progressive kyphoscoliosis. Although the COL2A1 gene mutation was found to be responsible for DSC, a case of DSC with no pathogenic mutation in the COL2A1 gene has also been reported, suggesting that the condition is genetically heterogeneous. Here, we report 2 novel heterozygous mutations in COL2A1 in 2 patients with DSC...
May 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29928177/interstitial-chromosome-3p13p14-deletions-an-update-and-review
#15
REVIEW
Catherine A Hajek, Jianling Ji, Sulagna C Saitta
Deletions of proximal chromosome 3p13p14 are infrequent chromosomal alterations. Variable sizes and breakpoints have been reported in patients with a wide range of phenotypes that are evolving as additional cases are reported. The routine use of high-density chromosomal microarrays (CMA) has allowed the identification of many more cases of this disorder and clinical phenotyping shows evidence for an emerging profile among patients with overlapping deletions of 3p13p14. Here, we review the currently reported cases, their phenotypes and where available, the genomic intervals delineated by CMA...
May 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29928176/intragenic-deletions-may-involve-enhancer-sequences-and-alter-cntnap2-expression
#16
EDITORIAL
Martin Poot
No abstract text is available yet for this article.
May 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29593480/react-congress-program-2018
#17
(no author information available yet)
No abstract text is available yet for this article.
February 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29593479/-rarevolution-stand-up-for-scientific-research-on-rare-diseases
#18
EDITORIAL
Olivier Menzel
No abstract text is available yet for this article.
February 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29593478/a-novel-gmppa-mutation-in-two-adult-sisters-with-achalasia-alacrima-short-stature-dysmorphism-and-intellectual-disability
#19
Edmar O Benítez, Juan J Morales, Luis A Muñoz, Christian A Hübner, Osvaldo M Mutchinick
The alacrima, achalasia, and mental retardation syndrome (AAMR) is a newly described autosomal recessive disorder characterized by the onset of these 3 main features at birth or in early infancy. At present, only 16 cases have been reported. Recently, it was shown that AAMR is due to mutations in the guanosine diphosphate (GDP)-mannose pyrophosphorylase A ( GMPPA ) gene. These mutations induce a significant GDP-mannose overload, which may affect protein glycosylation. Herein, for the first time, we describe 2 adult sisters with AAMR with a previously not reported deleterious homozygous missense mutation c...
February 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29593477/novel-nonsense-mutation-in-slc39a13-initially-presenting-as-myopathy-case-report-and-review-of-the-literature
#20
Maja Dusanic, Gabriele Dekomien, Thomas Lücke, Matthias Vorgerd, Joachim Weis, Joerg T Epplen, Cornelia Köhler, Sabine Hoffjan
Myopathies comprise a heterogeneous group of disorders characterized by variable phenotypes. The increasing use of next-generation sequencing allows identification of the causative genes in a much higher percentage of patients with hereditary muscle disorders and also illustrates a considerable degree of overlap with other clinical entities, including connective tissue disorders. Here, we present a 14-year-old German patient who was initially suspected to suffer from myopathy based on his clinical, radiological, and muscle biopsy findings...
February 2018: Molecular Syndromology
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