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Molecular Syndromology

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https://www.readbyqxmd.com/read/29928183/identification-of-a-new-candidate-locus-for-ebstein-anomaly-in-1p36-2
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
(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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/29593476/novel-and-recurrent-mutations-in-the-fgfr3-gene-and-double-heterozygosity-cases-in-a-cohort-of-brazilian-patients-with-skeletal-dysplasia
#13
Maria E S Gomes, Thatiane Y Kanazawa, Fernanda R Riba, Natálya G Pereira, Maria C C Zuma, Natana C Rabelo, Maria T Sanseverino, Dafne D G Horovitz, Juan C Llerena, Denise P Cavalcanti, Sayonara Gonzalez
Mutations in the fibroblast growth factor receptor 3 gene ( FGFR3 ) cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TDI/TDII). In this study, we performed a genetic study of 123 Brazilian patients with these phenotypes. Mutation hotspots of the FGFR3 gene were PCR amplified and sequenced. All cases had recurrent mutations related to ACH, HCH, TDI or TDII, except for 2 patients. One of them had a classical TDI phenotype but a typical ACH mutation (c.1138G>A) in combination with a novel c...
February 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29593475/language-and-cognitive-impairment-associated-with-a-novel-p-cys63arg-change-in-the-med13l-transcriptional-regulator
#14
Salud Jiménez-Romero, Pilar Carrasco-Salas, Antonio Benítez-Burraco
Mutations in the MED13L gene, which encodes a subunit of a transcriptional regulatory complex, result in a complex phenotype entailing physical and cognitive anomalies. Deep language impairment has been reported in affected individuals, mostly in patients with copy number variations. We report on a child with a nonsynonymous p.Cys63Arg change in MED13L (chr12:116675396A>G, GRCh37) who exhibits profound language impairment in the expressive domain, cognitive delay, behavioral disturbances, and an autism-like phenotype...
February 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29593474/a-clinical-review-of-generalized-overgrowth-syndromes-in-the-era-of-massively-parallel-sequencing
#15
REVIEW
Benjamin Kamien, Anne Ronan, Gemma Poke, Ingrid Sinnerbrink, Gareth Baynam, Michelle Ward, William T Gibson, Tracy Dudding-Byth, Rodney J Scott
The overgrowth syndromes are important to diagnose, not just for accurate genetic counseling, but also for knowledge surrounding cancer surveillance and prognosis. There has been a recent expansion in the number of genes associated with a mendelian overgrowth phenotype, so this review updates previous classifications of overgrowth syndromes. We also describe a clinical and molecular approach to the investigation of individuals presenting with overgrowth. This review aims to assist the clinical diagnosis of generalized overgrowth syndromes by outlining the salient features of well-known overgrowth syndromes alongside the many syndromes that have been discovered and classified more recently...
February 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29593473/cerebral-cavernous-malformations-an-update-on-prevalence-molecular-genetic-analyses-and-genetic-counselling
#16
REVIEW
Stefanie Spiegler, Matthias Rath, Christin Paperlein, Ute Felbor
Based on the latest gnomAD dataset, the prevalence of symptomatic hereditary cerebral cavernous malformations (CCMs) prone to cause epileptic seizures and stroke-like symptoms was re-evaluated in this review and calculated to be 1:5,400-1:6,200. Furthermore, state-of-the-art molecular genetic analyses of the known CCM loci are described which reach an almost 100% mutation detection rate for familial CCMs if whole genome sequencing is performed for seemingly mutation-negative families. An update on the spectrum of CCM1 , CCM2 , and CCM3 mutations demonstrates that deep-intronic mutations and submicroscopic copy-number neutral genomic rearrangements are rare...
February 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29593472/call-for-nomination-of-members-of-the-international-standing-committee-of-human-cytogenomic-nomenclature
#17
(no author information available yet)
No abstract text is available yet for this article.
February 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29456484/7q-deletion-12q-duplication-is-the-possible-cause-of-an-alobar-holoprosencephaly-case
#18
Vassilis Paspaliaris, Nikolaos Vrachnis, Zoe Iliodromiti, Nikolaos Antonakopoulos, Giorgos Papaioannou, Nikolaos Vlachadis, Foteini Anastasiadou, Sotirios Sotiriou, Antonios Garas, Lorreta Thomaidis, Emmanouil Manolakos
Holoprosencephaly (HPE) spectrum disorder is the most common congenital malformation of the human brain with absence of or incomplete midline cleavage. Its cause is heterogenic, making genetic counseling a challenge. In this case report, a pregnancy affected by alobar HPE is described. Using aCGH, an 8.9-Mb deletion at 7q36.1q36.3 together with a 4.9-Mb duplication at 12q24.32q24.33 is assumed to be the possible reason for this alobar HPE case. It is discussed that disruption of key elements of the developing brain, taking environmental factors into account, contributes to the HPE spectrum...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29456483/two-novel-pathogenic-mid1-variants-and-genotype-phenotype-correlation-reanalysis-in-x-linked-opitz-g-bbb-syndrome
#19
Nuno Maia, Maria J Nabais Sá, Nataliya Tkachenko, Gabriela Soares, Isabel Marques, Bárbara Rodrigues, Ana M Fortuna, Rosário Santos, Arjan P M de Brouwer, Paula Jorge
X-linked Opitz G/BBB syndrome (XLOS) is a multisystemic congenital condition, caused by mutations in the midline-1 gene ( MID1 ), characterized by a large inter- and intrafamilial phenotypic variability and often associated with intellectual disability (ID). We report clinical, genetic, and molecular findings in 4 patients with typical XLOS dysmorphic features belonging to 2 unrelated families. Two novel pathogenic loss-of-function MID1 variants, a maternally inherited c.1656del and a de novo c.1215_1228dup, were identified...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29456482/ring-chromosome-17-not-involving-the-miller-dieker-region-a-case-with-drug-resistant-epilepsy
#20
Antonietta Coppola, Deborah Morrogh, Fiona Farrell, Simona Balestrini, Laura Hernandez-Hernandez, S Krithika, Josemir W Sander, Jonathan J Waters, Sanjay M Sisodiya
Chromosomal abnormalities are often identified in people with neurodevelopmental disorders including intellectual disability, autism, and epilepsy. Ring chromosomes, which usually involve gene copy number loss, are formed by fusion of subtelomeric or telomeric chromosomal regions. Some ring chromosomes, including ring 14, 17, and 20, are strongly associated with seizure disorders. We report an individual with a ring chromosome 17, r(17)(p13.3q25.3), with a terminal 17q25.3 deletion and no short arm copy number loss, and with a phenotype characterized by intellectual disability and drug-resistant epilepsy, including a propensity for nonconvulsive status epilepticus...
December 2017: Molecular Syndromology
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