journal
MENU ▼
Read by QxMD icon Read
search

Molecular Syndromology

journal
https://www.readbyqxmd.com/read/28690489/severe-neurological-phenotype-in-a-girl-with-xp22-31-triplication
#1
Antonio Polo-Antúnez, Ignacio Arroyo-Carrera
The Xp22.31 duplication is a copy number variant which is challenging to categorize as pathogenic or benign. There is an increasing number of patients with the duplication and a neurobehavioral phenotype, but the duplication is almost always inherited from a parent, who in some cases is phenotypically normal. Also, the duplication is detected in the general population, though in a smaller percentage than in clinically ascertained populations. The Xp22.31 triplication has only been identified in 3 individuals of a large cohort of developmental delay cases but never in the control cohorts or general population...
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28690488/a-novel-partial-duplication-of-zeb2-and-review-of-zeb2-involvement-in-mowat-wilson-syndrome
#2
Adrianne L Baxter, Jay L Vivian, R Tanner Hagelstrom, Waheeda Hossain, Wendy L Golden, E Robert Wassman, Rena J Vanzo, Merlin G Butler
Mowat-Wilson syndrome is a rare genetic condition characterized by intellectual disability, structural anomalies, and dysmorphic features. It is caused by haploinsufficiency of the ZEB2 gene in chromosome 2q22.3. Over 180 distinct mutations in ZEB2 have been reported, including nonsense and missense point mutations, deletions, and large chromosomal rearrangements. We report on a 14-year-old female with a clinical diagnosis of Mowat-Wilson syndrome. Chromosomal microarray identified a novel de novo 69-kb duplication containing exons 1 and 2 of the ZEB2 gene...
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28690487/cant%C3%A3%C2%BA-syndrome-associated-with-ovarian-agenesis
#3
Helena Fryssira, Stavroula Psoni, Styliani Amenta, Eirini Tsoutsou, Christalena Sofocleous, Emmanouil Manolakos, Maria Gavra, Hermann-Joseph Lüdecke, Johanna-Christina Czeschik
Cantú syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly, and occasionally, skeletal abnormalities. The syndrome has been attributed to mutated ABCC9 or KCNJ8 genes. We present a 4-year-old girl with developmental delay, distinctive coarse facial features, and generalized hypertrichosis apparent since birth. The investigation revealed absent ovaries and a hypoplastic uterus which have not been previously described...
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28690486/adult-phenotype-and-rs16864880-in-the-tp63-gene-two-new-cases-and-review-of-the-literature
#4
Tânia Kawasaki de Araujo, Elaine Lustosa-Mendes, Ana P Dos Santos, Miriam Coelho Molck, Roberta Mazzariol Volpe-Aquino, Vera L Gil-da-Silva-Lopes
The TP63 gene has been described in 5 overlapping limb malformation disorders, including a rare autosomal dominant ectodermal disorder named acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. This article describes 2 patients with ectrodactyly and variable features related to ectodermal dysplasia/ADULT syndrome, and the polymorphism rs16864880 in the TP63 gene, which was not present in their parents. The role of this variant in the genesis of this condition is discussed, based upon a review of 40 cases. The results suggested that rs16864880 may not be directly related to ADULT syndrome...
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28690485/a-novel-pathogenic-variant-in-the-mitf-gene-segregating-with-a-unique-spectrum-of-ocular-findings-in-an-extended-iranian-waardenburg-syndrome-kindred
#5
Nazanin Jalilian, Mohammad A Tabatabaiefar, Tayyeb Bahrami, Golaleh Karbasi, Mohammad H Bahramian, Abdolrahman Salimpoor, Mohammad R Noori-Daloii
Waardenburg syndrome (WS) is a rare genetic disorder characterized by abnormal pigmentation of the hair, skin, and iris as well as sensorineural hearing loss. WS is subdivided into 4 major types (WS1-4), where WS2 is characterized by the absence of dystopia canthorum. This study was launched to investigate clinical and molecular characteristics of WS in an extended Iranian WS2 family. A comprehensive clinical investigation was performed. Peripheral blood samples were collected and genomic DNA was extracted...
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28690484/genomic-investigation-of-balanced-chromosomal-rearrangements-in-patients-with-abnormal-phenotypes
#6
Milena Simioni, François Artiguenave, Vincent Meyer, Ilária C Sgardioli, Nilma L Viguetti-Campos, Isabella Lopes Monlleó, Andréa T Maciel-Guerra, Carlos E Steiner, Vera L Gil-da-Silva-Lopes
Balanced chromosomal rearrangements (BCR) are associated with abnormal phenotypes in approximately 6% of balanced translocations and 9.4% of balanced inversions. Abnormal phenotypes can be caused by disruption of genes at the breakpoints, deletions, or positional effects. Conventional cytogenetic techniques have a limited resolution and do not enable a thorough genetic investigation. Molecular techniques applied to BCR carriers can contribute to the characterization of this type of chromosomal rearrangement and to the phenotype-genotype correlation...
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28690483/novel-mutations-in-the-crystallin-gene-in-age-related-cataract-patients-from-a-north-indian-population
#7
Rashmi Patel, Ravish K Zenith, Abhishek Chandra, Akhtar Ali
Cataract is the most prevalent leading cause of visual impairment and blindness worldwide. In comparison to congenital cataract, which affects relatively few individuals, age-related cataract is responsible for slightly half of all cases of blindness worldwide. Although significant work has been done, the genetic aspect of age-related cataract is still in its infancy. The current study was performed to analyze the mutations and polymorphisms in the CRYAA, CRYAB, CRYBB1, and GJA8 genes in 40 unrelated age-related cataract patients...
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28690482/barber-say-syndrome-and-ablepharon-macrostomia-syndrome-a-patient-s-view
#8
Beatrice De Maria, Tresia de Jager, Caitlin Sarubbi, Oliver Bartsch, Alberto Bianchi, Francesco Brancati, Hon-Yin B Chung, Albert David, Ariana Kariminejad, Maura Foresti, Marina Gallottini, Bertrand Isidor, Shannon Marchegiani, Fabiana Martins, Laura Mazzanti, Nathalie Roche, Ankur Singh, Cathy Stevens, Kenichi Suga, Martin Zenker, Raoul C Hennekam
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with...
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28690481/the-age-of-the-father
#9
EDITORIAL
Martin Poot
No abstract text is available yet for this article.
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28588438/a-new-case-of-the-rare-10q22-3q23-2-microdeletion-flanked-by-low-copy-repeats-3-4
#10
Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, Fabíola Paoli Monteiro, Vera L Gil-da-Silva-Lopes
Deletions in the 10q22.3q23.2 region are rare and mediated by 2 low-copy repeats (LCRs 3 and 4). These deletions have already been recognized as the 10q22q23 deletion syndrome. The phenotype associated with this condition is rather uncharacteristic, and most common features are craniofacial dysmorphisms and developmental delay. We describe a boy with craniofacial dysmorphic features, developmental delay, tetralogy of Fallot, hand/foot abnormalities, and recurrent respiratory tract infections. Chromosomal microarray analysis disclosed a 7...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28588437/molecular-characterization-of-koolen-de-vries-syndrome-in-two-girls-with-idiopathic-intellectual-disability-from-central-brazil
#11
Gustavo R Nascimento, Irene P Pinto, Aldaires V de Melo, Damiana M da Cruz, Cristiano L Ribeiro, Claudio C da Silva, Aparecido D da Cruz, Lysa B Minasi
Koolen de Vries syndrome (KDVS; MIM 610443) is a genomic disorder caused by a recurrent microdeletion derived from nonallelic homologous recombination mediated by flanking segmental duplications. Clinical manifestations of this syndrome are characterized by intellectual disability, hypotonia, a friendly behavior, distinctive facial features, and epilepsy. Herein, we report a case of 2 girls who revealed global developmental delay, mild facial dysmorphisms, friendly behavior, and epileptic seizure with a de novo 17q21...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28588436/novel-marfan-syndrome-associated-mutation-in-the-fbn1-gene-caused-by-parental-mosaicism-and-leading-to-abnormal-limb-patterning
#12
Efrén Martínez-Quintana, Noemí Caballero-Sánchez, Fayna Rodríguez-González, Paloma Garay-Sánchez, Antonio Tugores
Marfan syndrome is an autosomal dominant disorder of the connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Mutations affecting cysteine residues within the epidermal growith factor-like calcium-binding domains (EGF_CA) of FBN1 are associated with Marfan syndrome features and, especially, with ectopia lentis. We report a novel substitution, affecting the first cysteine of an EGF_CA-binding module encoded by exon 63 of FBN1 (C2571Y), in a patient presenting with typical Marfan syndrome features but without ectopia lentis...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28588435/variable-penetrance-of-the-15q11-2-bp1-bp2-microduplication-in-a-family-with-cognitive-and-language-impairment
#13
Antonio Benítez-Burraco, Montserrat Barcos-Martínez, Isabel Espejo-Portero, Salud Jiménez-Romero
The 15q11.2 BP1-BP2 region is found duplicated or deleted in people with cognitive, language, and behavioral impairment. We report on a family (a father and 3 male twin siblings) that presents with a duplication of the 15q11.2 BP1-BP2 region and a variable phenotype: the father and the fraternal twin are normal carriers, whereas the monozygotic twins exhibit severe language and cognitive delay as well as behavioral disturbances. The genes located within the duplicated region are involved in brain development and function, and some of them are related to language processing...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28588434/maternal-uniparental-disomy-14-temple-syndrome-as-a-result-of-a-robertsonian-translocation
#14
Veronica Bertini, Antonella Fogli, Rossella Bruno, Alessia Azzarà, Angela Michelucci, Teresa Mattina, Silvano Bertelloni, Angelo Valetto
Maternal uniparental disomy of chromosome 14 (upd(14)mat) or Temple syndrome is an imprinting disorder associated with a relatively mild phenotype. The absence of specific congenital malformations makes this condition underdiagnosed in clinical practice. A boy with a de novo robertsonian translocation 45,XY,rob(13;14)(q10;q10) is reported; a CGH/SNP array showed a loss of heterozygosity in 14q11.2q13.1. The final diagnosis of upd(14)mat was made by microsatellite analysis, which showed a combination of heterodisomy and isodisomy for different regions of chromosome 14...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28588433/intragenic-cntnap2-deletions-a-bridge-too-far
#15
REVIEW
Martin Poot
Intragenic deletions of the contactin-associated protein-like 2 gene (CNTNAP2) have been found in patients with Gilles de la Tourette syndrome, intellectual disability (ID), obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, autism, schizophrenia, Pitt-Hopkins syndrome, stuttering, and attention deficit hyperactivity disorder. A variety of molecular mechanisms, such as loss of transcription factor binding sites and perturbation of penetrance and expressivity, have been proposed to account for the phenotypic variability resulting from CNTNAP2 mutations...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28588432/of-simple-and-complex-genome-rearrangements-chromothripsis-chromoanasynthesis-and-chromosome-chaos
#16
EDITORIAL
Martin Poot
No abstract text is available yet for this article.
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28611553/a-female-patient-with-fmr1-premutation-and-mosaic-x-chromosome-aneuploidy-and-two-sons-with-intellectual-disability
#17
Ekaterina M Galanina, Andrey A Tulupov, Natalya A Lemskaya, Aleksandra M Korostyshevskaya, Yuliya V Maksimova, Asia R Shorina, Andrey A Savelov, Irina G Sergeeva, Evgeniya R Isanova, Irina V Grishchenko, Dmitry V Yudkin
In this report, we describe a molecular cytogenetic study of a family burdened with intellectual disability (ID) and suicide. Our study revealed that the mother has a heterozygous premutation in the FMR1 gene and supernumerary X chromosomes as well as X-derived marker chromosomes. Both of her sons have ID and a normal chromosome number. One of the sons has fragile X syndrome, and the other has ID of an unclear nature.
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28611552/a-novel-mutation-in-pitx2-in-a-patient-with-axenfeld-rieger-syndrome
#18
Susan J Hassed, Shibo Li, Weihong Xu, Ashley C Taylor
Axenfeld-Rieger syndrome is a rare autosomal dominant condition. Anomalies include anterior segment dysgenesis of the eye, dental anomalies, maxillary hypoplasia, periumbilical anomalies, and congenital heart defects. We report a patient with Peters anomaly, dysmorphic features, congenital heart defect, umbilical hernia, short stature, and developmental delay. Diagnostic sequencing of 23 genes known to be causally related to the condition was performed on the patient, parents, and maternal grandparents. A variant of uncertain significance in PITX2 was identified...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28611551/first-two-cases-of-bloom-syndrome-in-russia-lack-of-skin-manifestations-in-a-blm-c-1642c-t-p-q548x-homozygote-as-a-likely-cause-of-underdiagnosis
#19
Evgeny N Suspitsin, Farida I Sibgatullina, Lydia V Lyazina, Evgeny N Imyanitov
Bloom syndrome (BS) is an exceptionally rare hereditary disease. Typical manifestations of BS usually include growth deficiency, a characteristic facial appearance, skin hypersensitivity to ultraviolet irradiation, and a strong predisposition to early-onset cancers. We have previously described a recurrent BLM c.1642C>T (p.Q548X) mutation, which is present in heterozygous state in 0.2-0.6% of individuals of Slavic origin. Despite the high occurrence of this founder allele, BS has not yet been described in patients of Slavic ethnicity...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28611550/familial-5q12-3-microdeletion-evidence-for-a-locus-associated-with-epilepsy
#20
Chiara Gnan, Alessandra Franzoni, Federica Baldan, Nadia Passon, Giuseppe Damante, Patrizia Dello Russo
The clinical use of array comparative genomic hybridization (array CGH) has allowed the identification of very rare deletion and duplication disorders, such as 5q12 deletion syndrome (OMIM 615668) described as a contiguous gene deletion syndrome of chromosome 5q12. Chromosome microdeletions including band 5q12 have rarely been reported and have been associated with different phenotypes showing postnatal growth restriction, intellectual disability, epileptic seizures, hyperactivity, and ocular abnormalities...
March 2017: Molecular Syndromology
journal
journal
42894
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"