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Molecular Syndromology

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https://www.readbyqxmd.com/read/29593480/react-congress-program-2018
#1
(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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
(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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/29456481/double-interstitial-deletion-of-the-long-arm-of-chromosome-6-in-a-patient-with-pierre-robin-sequence-dysmorphisms-and-severe-developmental-delay
#13
Giulia Parmeggiani, Stefania Bigoni, Barbara Buldrini, Giampaolo Garani, Luigi Clauser, Manilo Galiè, Alessandra Ferlini, Sergio Fini
Reported here is the case of a 1.8-year-old boy with a 9.6- Mb deletion in 6q13q14.1 and an 11.2-Mb deletion in 6q21q22.31, ascertained through array CGH, as the result of a complex de novo chromosome rearrangement. The clinical picture of this patient is characterized by severe psychomotor delay, dysmorphic features, and some congenital defects. Although, as reported in the literature, phenotypes associated with 6q deletions may vary, an attempt was made to associate the patient's symptoms to either deletion, comparing them to previously reported cases...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29456480/novel-homozygous-missense-mutation-in-ryr1-leads-to-severe-congenital-ptosis-ophthalmoplegia-and-scoliosis-in-the-absence-of-myopathy
#14
Nafi Dilaver, Neda Mazaheri, Reza Maroofian, Jawaher Zeighami, Tahere Seifi, Mina Zamani, Alireza Sedaghat, Gholam Reza Shariati, Hamid Galehdari
Ryanodine receptor 1 ( RYR1 ) is an intracellular calcium receptor primarily expressed in skeletal muscle with a role in excitation contraction. Both dominant and recessive mutations in the RYR1 gene cause a range of RYR1 -related myopathies and/or susceptibility to malignant hyperthermia (MH). Recently, an atypical manifestation of ptosis, variably presenting with ophthalmoplegia, facial paralysis, and scoliosis but without significant muscle weakness, has been reported in 9 cases from 4 families with bialleic variants in RYR1 ...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29456479/a-novel-missense-variant-in-the-pvrl4-gene-underlying-ectodermal-dysplasia-syndactyly-syndrome-in-a-turkish-child
#15
Leila Dardour, Katrien Cosyns, Koenraad Devriendt
Ectodermal dysplasia-syndactyly syndrome is a rare autosomal recessive congenital disorder caused by mutations in PVRL4 coding for nectin-4. Five different mutations in the PVRL4 gene, including 3 homozygous missense mutations, have been reported. Here, we present an unreported missense variant (c.247C>T, p.His83Tyr) in a consanguineous Turkish family.
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29456478/proximal-deletion-of-6q-overlapping-with-toriello-carey-facial-phenotype-prenatal-findings-clinical-course-differential-diagnosis-and-review
#16
Sofía Catena, Mariana Aracena, Óscar Pizarro, Karena Espinoza, Guillermo Lay-Son
Proximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients have deletions of different sizes but share partial overlap and present with similar clinical features, and some of them were described prior to the introduction of chromosome microarrays. We describe a male patient with prenatal sonographic findings of nuchal edema, intrauterine growth restriction, renal pelvis dilatation, and oligohydramnios. At birth, facial dysmorphism, retro/micrognathia, a short and wide neck as well as cardiovascular and renal anomalies were noted...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29456477/dual-diagnosis-of-ellis-van-creveld-syndrome-and-hearing-loss-in-a-consanguineous-family
#17
Barbara Vona, Reza Maroofian, Geetu Mendiratta, Matthew Croken, Siwu Peng, Xiaoqian Ye, Jamileh Rezazadeh, Paulina Bahena, Caroline Lekszas, Thomas Haaf, Lisa Edelmann, Lisong Shi
Multilocus analysis of rare or genetically heterogeneous diseases is a distinct advantage of next-generation sequencing (NGS) over conventional single-gene investigations. Recent studies have begun to uncover an under-recognized prevalence of dual molecular diagnoses in patients with a "blended" phenotype that is the result of 2 clinical diagnoses involving 2 separate genetic loci. This blended phenotype could be mistakenly interpreted as a novel clinical extension of a single-gene disorder. In this study, we ascertained a proband from a large consanguineous Iranian family who manifests postlingual, progressive, moderate hearing loss in addition to suspected Ellis-van Creveld syndrome phenotype...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29456476/scratching-the-surface-of-werner-syndrome-and-human-ageing
#18
EDITORIAL
Martin Poot
No abstract text is available yet for this article.
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29230163/genetic-counselling-pitfall-co-occurrence-of-an-11-8-mb-xp22-duplication-and-an-xp21-2-duplication-disrupting-il1rapl1
#19
Nicolas Chatron, Lucie Thibault, James Lespinasse, Audrey Labalme, Caroline Schluth-Bolard, Marianne Till, Patrick Edery, Renaud Touraine, Vincent des Portes, Gaetan Lesca, Damien Sanlaville
We report a 3-generation family in which 2 Xp copy number variations (CNVs) co-segregate. The proband presented with syndromic intellectual disability. The CNV had been revealed by conventional karyotyping, identifying a large Xp22 duplication causing an Xp functional disomy. Family studies found that this duplication was inherited from the proband's mother and was also present in one of his sisters. This sister had conventional karyotyping performed during pregnancy with a normal result. Postnatally, her child, the proband's nephew, presented with autism spectrum disorders...
November 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29230162/a-novel-de-novo-fzd2-mutation-in-a-patient-with-autosomal-dominant-omodysplasia
#20
Seval Türkmen, Malte Spielmann, Nilay Güneş, Alexej Knaus, Ricarda Flöttmann, Stefan Mundlos, Beyhan Tüysüz
We described a heterozygous de novo mutation (G434V) in the frizzled class receptor 2 ( FZD2 ) gene in a patient with distinct facial features including hypertelorism, bilateral cleft lip/palate, short nose with a broad nasal bridge, microretrognathia, and bilateral shortness of the upper limbs, first metacarpal bones, and middle phalanges of the 5th digits. The findings of our patient were compared to an autosomal dominant omodysplasia (OMOD2) family with FZD2 mutation reported in the literature. OMOD2 is a rare skeletal dysplasia and characterized by facial dysmorphism and shortness of the upper extremities and first metacarpal bones...
November 2017: Molecular Syndromology
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