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Molecular Syndromology

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https://www.readbyqxmd.com/read/29456484/7q-deletion-12q-duplication-is-the-possible-cause-of-an-alobar-holoprosencephaly-case
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/29230161/a-homozygous-missense-variant-in-inpp5e-associated-with-joubert-syndrome-and-related-disorders
#12
Mitesh Shetty, Nimmy Ramdas, Shubhi Sahni, Nandita Mullapudi, Sridevi Hegde
Joubert syndrome and related disorders (JSRD; ORPHA 140874) is a complex set of neurodevelopmental disorders with multiple organ involvement. JSRD is a type of ciliopathy which is caused by the presence of defective primary cilia in an individual. JSRD is commonly inherited in an autosomal recessive pattern, and more than 23 genes are known to be associated with JSRD. We report a novel homozygous mutation identified in the INPP5E gene, c.1303C>T, which leads to a change of an amino acid from arginine to tryptophan at residue 435 in the protein chain...
November 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29230160/whole-exome-sequencing-identifies-a-de-novo-ahdc1-mutation-in-a-colombian-patient-with-xia-gibbs-syndrome
#13
Mary García-Acero, Johanna Acosta
Xia-Gibbs syndrome is an autosomal dominant multisystem developmental disorder characterized by global developmental delay, hypotonia, obstructive sleep apnea, seizures, retrocerebellar cysts, delayed myelination, micrognathia, and mild dysmorphic features. Using whole-exome sequencing, we identified a de novo AHDC1 frameshift mutation c.2030_2030delG (p.G677Afs*52) in a Colombian patient, which was absent in both parents. Furthermore, we summarized the phenotypes of patients reported in the literature.
November 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29230159/spondyloepimetaphysial-dysplasia-with-joint-laxity-in-three-siblings-with-b3galt6-mutations
#14
Pamela Trejo, Frank Rauch, Francis H Glorieux, Jean Ouellet, Thierry Benaroch, Philippe M Campeau
Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is a rare entity with a recessive inheritance. In this report, we describe 3 affected members of the same family who present with short stature, hyperlaxity with secondary spinal malalignment, ulnar subluxation, developmental dysplasia of the hips, and craniofacial alterations; one member also had learning difficulties. DNA analysis showed compound heterozygous variants in the B3GALT6 gene (c.901_921dup, c.511C>T) in all 3 patients, inherited from the parents...
November 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29230158/significant-improvement-of-clinical-symptoms-bone-lesions-and-bone-turnover-after-long-term-zoledronic-acid-treatment-in-patients-with-a-severe-form-of-camurati-engelmann-disease
#15
Giampiero I Baroncelli, Elena Ferretti, Cecilia M Pini, Benedetta Toschi, Rita Consolini, Silvano Bertelloni
Camurati-Engelmann disease (CED) is an ultrarare autosomal dominant bone dysplasia. Cortical thickening of the diaphyses of the long bones with narrowing of the medullary cavity are associated with bone pain, waddling gait, muscular weakness, easy fatigability, and a marfanoid body habitus. There is no specific treatment for CED. Nonsteroidal anti-inflammatory drugs or glucocorticoids are ineffective in improving bone lesions. A family with a mild to severe form of CED is described. Two patients received long-term bisphosphonate treatment: the 19-year-old female proband was treated with zoledronic acid for 2...
November 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29230157/novel-stil-compound-heterozygous-mutations-cause-severe-fetal-microcephaly-and-centriolar-lengthening
#16
Francesca Cristofoli, Bart De Keersmaecker, Luc De Catte, Joris R Vermeesch, Hilde Van Esch
STIL (SCL/TAL1 interrupting locus) is a core component of the centriole duplication process. STIL mutations have been associated with both autosomal recessive primary microcephaly (MCPH) and holoprosencephaly. In this report, we describe a family with multiple miscarriages and 2 terminations of pregnancy due to marked fetal microcephaly, delayed cortical gyrification, and dysgenesis of the corpus callosum. Whole exome sequencing allowed us to identify novel compound heterozygous mutations in STIL. The mutations lie, respectively, in the CPAP/CENPJ and the hsSAS6 interacting domains of STIL...
November 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29230156/neocentromeres-to-the-rescue-of-acentric-chromosome-fragments
#17
EDITORIAL
Martin Poot
No abstract text is available yet for this article.
November 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28878612/whole-exome-sequencing-reveals-fat4-mutations-in-a-clinically-unrecognizable-patient-with-syndromic-cakut-a-case-report
#18
Amelie T van der Ven, Shirlee Shril, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Kristen M Laricchia, Monkol Lek, Velibor Tasic, Friedhelm Hildebrandt
We present the case of a patient of Macedonian origin with unilateral renal agenesis and ureterovesical junction obstruction in combination with further abnormalities including midface hypoplasia, scoliosis as well as camptodactyly of one toe. Whole-exome sequencing analysis revealed compound heterozygous variants in the FAT4 gene. Recessive variants in FAT4 are a known cause of van Maldergem syndrome (VMS) in which congenital anomalies of the kidney and urinary tract are a less characteristic but common feature...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28878611/low-level-chromosomal-mosaicism-in-neurodevelopmental-disorders
#19
Beatrice Oneda, Reza Asadollahi, Silvia Azzarello-Burri, Dunja Niedrist, Rosa Baldinger, Rahim Masood, Albert Schinzel, Bea Latal, Oskar G Jenni, Anita Rauch
Chromosomal mosaicism, which represents a diagnostic challenge for detection and interpretation, has been described in several genetic conditions. It can contribute to a large phenotypic variation in diseases. At analysis of a well-characterized cohort of 714 patients with neurodevelopmental disorders (NDDs) of unknown etiology using a high-resolution chromosomal microarray platform, we found 2 cases (0.28%) of low-level mosaicism and defined a previously detected extra chromosome in a third patient. Two of the cases were mosaics for segmental imbalances (a partial trisomy 3q26...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28878610/a-novel-loss-of-function-mutation-in-hoxb1-associated-with-autosomal-recessive-hereditary-congenital-facial-palsy-in-a-large-iranian-family
#20
Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Seyed M Kalantar, Mojtaba Jaafarinia, John Chilton, Mohammadreza Dehghani
Hereditary congenital facial palsy (HCFP) is a rare congenital cranial dysinnervation disorder, recognisable by non-progressive isolated facial nerve palsy (cranial nerve VII). It is caused by developmental abnormalities of the facial nerve nucleus and its nerve. So far, 4 homozygous mutations have been identified in 5 unrelated families (12 patients) with HCFP worldwide. In this study, a large Iranian consanguineous kindred with 5 members affected by HCFP underwent thorough clinical and genetic evaluation...
August 2017: Molecular Syndromology
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