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3q29 microdeletion

Alex V Kotlar, Kristina B Mercer, Michael E Zwick, Jennifer G Mulle
Schizophrenia research has undergone a recent transformation. By leveraging large sample sizes, genome-wide association studies of common genetic variants have approximately tripled the number of candidate genetic loci. Rare variant studies have identified copy number variants that are schizophrenia risk loci. Among these, the 3q29 microdeletion is now known to be the single largest schizophrenia risk factor. Next-generation sequencing studies are increasingly used for rare variant association testing, and have already facilitated identification of large effect alleles...
December 2015: European Journal of Medical Genetics
Debopam Samanta
No abstract text is available yet for this article.
September 2016: Acta Neurologica Belgica
I Quintela, F Barros-Angueira, L Perez-Gay, D Dacruz, M Castro-Gago, A Carracedo, J Eiris-Punal
INTRODUCTION: The 3q29 microdeletion and microduplication syndromes are characterised by a marked phenotypic heterogeneity, and delayed development and a mild-moderate degree of intellectual disability are the most frequent clinical manifestations. CASE REPORTS: Two patients with reciprocal chromosomal aberrations in the 3q29 region. The patient with 3q29 microdeletion presented learning disabilities, borderline microcephaly, mild facial dysmorphism, attentional deficit and impulsiveness, and anxious and obsessive traits...
September 16, 2015: Revista de Neurologia
Devin M Cox, Merlin G Butler
We report on a 15-year-old male with the 3q29 microdeletion syndrome and summarize the medical literature. He had intellectual disability, autism spectrum disorder, anxiety, obsessive compulsive tendencies, speech delay, delayed walking, a hypernasal voice, gait abnormalities, chronic constipation, gastroesophageal reflux disorder, urinary voiding dysfunction, abnormal skin pigmentation, and dysmorphic features. We present a review of the literature for the 3q29 microdeletion syndrome by comparing both the phenotype and the genetic defects in reported cases...
July 2015: Clinical Dysmorphology
Santina Città, Serafino Buono, Donatella Greco, Concetta Barone, Enrico Alfei, Sara Bulgheroni, Arianna Usilla, Chiara Pantaleoni, Corrado Romano
The 3q29 microdeletion syndrome is a rare, recurrent genomic disorder, associated with a variable phenotype, despite the same deletion size, consisting in neurodevelopmental features, such as intellectual disability (ID), schizophrenia, autism, bipolar disorder, depression and mild facial morphological anomalies/congenital malformations. A thorough neuropsychiatric evaluation has never been reported in patients with such syndrome. We analyzed the clinical phenotype of four individuals with 3q29 microdeletion syndrome, with special emphasis on the cognitive and behavioral assessment, in order to delineate the neuropsychiatric phenotype related to this condition...
December 2013: American Journal of Medical Genetics. Part A
Angela Sagar, Jeffrey R Bishop, D Clare Tessman, Steve Guter, Christa L Martin, Edwin H Cook
Some copy number variants (CNVs) are strongly implicated in both schizophrenia and autism spectrum disorders (ASDs). Childhood-onset schizophrenia (COS) occurs rarely with 0.1-1% of all schizophrenia diagnoses manifesting before age 10. 3q29 deletions are associated with both autism and schizophrenia, and are rare-the frequency of the deletion estimated to be 1 in 1,750 in developmental disorders. Only one patient with a 3q29 deletion was identified out of the first 1,174 families with ASDs included in the Simons Simplex Collection (SSC)...
April 2013: American Journal of Medical Genetics. Part A
F Aleixandre Blanquer, I Manchón Trives, M J Forniés Arnau, L A Alcaraz Mas, N Picó Alfonso, F Galán Sánchez
3q29 microduplication (MIM 611936) is rare syndrome characterized by moderate mental retardation, craniofacial dysmorphic features and musculoskeletal anomalies. The size of the minimal critical region is about 1.73 Mb. It is flanked by repetitive sequences and it is similar in size to the reciprocal 3q29 microdeletion, suggesting a non-allelic homologous recombination event (NAHR) at flanking LCR sequences as its aetiological mechanism. We describe a new familial case with variable expressivity.
December 2011: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
L S Carroll, H J Williams, J Walters, G Kirov, M C O'Donovan, M J Owen
Deletion of chromosome 3q29, which is associated with mental retardation and autism, was recently identified as being present in excess or occurring de novo in schizophrenia cases, being present in approximately 1/1,000 cases and 1/40,000 unscreened controls. Of the ∼20 genes in the commonly deleted region two are prominent candidates for involvement in the behavioral features of the microdeletion syndrome: DLG1 and PAK2. We report the result of mutation screening of the entire protein coding sequence of both genes in a sample of 234 unrelated cases and 272 unrelated controls from the UK...
December 2011: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Majed J Dasouki, Gerald H Lushington, Karine Hovanes, James Casey, Mereceds Gorre
The human 3q29 microdeletion syndrome is associated with mild facial dysmorphism, developmental delay and variable congenital malformations. We report three new unrelated patients with this syndrome. We also performed in silico RNA binding analysis in silico on the 3q29 critical region genes. Several genes within this genomic region including DLG1 and RNF168 are predicted to bind RNA. While recessive mutations in RNF168 cause RIDDLE syndrome, an immune deficiency and radiosensitivity disorder, the potential impact of heterozygous deletion of RNF168 on patients with the 3q29 deletion syndrome is still unknown...
July 2011: American Journal of Medical Genetics. Part A
Vladimir Vacic, Shane McCarthy, Dheeraj Malhotra, Fiona Murray, Hsun-Hua Chou, Aine Peoples, Vladimir Makarov, Seungtai Yoon, Abhishek Bhandari, Roser Corominas, Lilia M Iakoucheva, Olga Krastoshevsky, Verena Krause, Verónica Larach-Walters, David K Welsh, David Craig, John R Kelsoe, Elliot S Gershon, Suzanne M Leal, Marie Dell Aquila, Derek W Morris, Michael Gill, Aiden Corvin, Paul A Insel, Jon McClellan, Mary-Claire King, Maria Karayiorgou, Deborah L Levy, Lynn E DeLisi, Jonathan Sebat
Rare copy number variants (CNVs) have a prominent role in the aetiology of schizophrenia and other neuropsychiatric disorders. Substantial risk for schizophrenia is conferred by large (>500-kilobase) CNVs at several loci, including microdeletions at 1q21.1 (ref. 2), 3q29 (ref. 3), 15q13.3 (ref. 2) and 22q11.2 (ref. 4) and microduplication at 16p11.2 (ref. 5). However, these CNVs collectively account for a small fraction (2-4%) of cases, and the relevant genes and neurobiological mechanisms are not well understood...
March 24, 2011: Nature
Douglas F Levinson, Jubao Duan, Sang Oh, Kai Wang, Alan R Sanders, Jianxin Shi, Nancy Zhang, Bryan J Mowry, Ann Olincy, Farooq Amin, C Robert Cloninger, Jeremy M Silverman, Nancy G Buccola, William F Byerley, Donald W Black, Kenneth S Kendler, Robert Freedman, Frank Dudbridge, Itsik Pe'er, Hakon Hakonarson, Sarah E Bergen, Ayman H Fanous, Peter A Holmans, Pablo V Gejman
OBJECTIVE: To evaluate previously reported associations of copy number variants (CNVs) with schizophrenia and to identify additional associations, the authors analyzed CNVs in the Molecular Genetics of Schizophrenia study (MGS) and additional available data. METHOD: After quality control, MGS data for 3,945 subjects with schizophrenia or schizoaffective disorder and 3,611 screened comparison subjects were available for analysis of rare CNVs (<1% frequency). CNV detection thresholds were chosen that maximized concordance in 151 duplicate assays...
March 2011: American Journal of Psychiatry
Robin McGoey, Aditi Varma, Yves Lacassie
Toriello-Carey syndrome (TCS) is a multiple congenital anomaly syndrome of unknown etiopathogenesis with characteristic findings including corpus callosum defects, minor facial dysmorphisms, mental retardation, postnatal growth delays, cardiac defects, limb anomalies and genitourinary defects in affected males. This report describes two siblings with features of the TCS in whom array comparative genomic hybridization detected both a 3q29 microduplication as well as a 6p25 microdeletion due to an unbalanced translocation inherited from the father...
December 2010: American Journal of Medical Genetics. Part A
Fabiola Quintero-Rivera, Pantea Sharifi-Hannauer, Julian A Martinez-Agosto
The screening of individuals with mild dysmorphic features and mental retardation using whole genome scanning technologies has resulted in the delineation of several previously unrecognized microdeletion syndromes. Microdeletion of 3q29 has been recently described as one such new syndrome. The clinical phenotype is variable despite an almost identical submicroscopic deletion size in most cases. We report on two individuals that further expand the clinical presentation of this rare disorder and compare the findings with earlier reports to refine the 3q29 microdeletion syndrome phenotype...
October 2010: American Journal of Medical Genetics. Part A
Jennifer Gladys Mulle, Anne F Dodd, John A McGrath, Paula S Wolyniec, Adele A Mitchell, Amol C Shetty, Nara L Sobreira, David Valle, M Katharine Rudd, Glen Satten, David J Cutler, Ann E Pulver, Stephen T Warren
Schizophrenia (SZ) is a severe psychiatric illness that affects approximately 1% of the population and has a strong genetic underpinning. Recently, genome-wide analysis of copy-number variation (CNV) has implicated rare and de novo events as important in SZ. Here, we report a genome-wide analysis of 245 SZ cases and 490 controls, all of Ashkenazi Jewish descent. Because many studies have found an excess burden of large, rare deletions in cases, we limited our analysis to deletions over 500 kb in size. We observed seven large, rare deletions in cases, with 57% of these being de novo...
August 13, 2010: American Journal of Human Genetics
Aline L Petrin, Sandra Daack-Hirsch, Jamie L'Heureux, Jeffrey C Murray
OBJECTIVE: The objective of this study was to use array comparative genomic hybridization to detect causal microdeletions in samples of subjects with cleft lip and palate. SUBJECTS: We analyzed DNA samples from a male patient and his parents seen during surgical screening for an Operation Smile medical mission in the Philippines. METHOD: We used Affymetrix® Genome-Wide Human SNP Array 6.0 followed by sequencing and quantitative polymerase chain reaction using SYBR Green I dye...
March 2011: Cleft Palate-craniofacial Journal
Jill Clayton-Smith, Carol Giblin, Rupert A Smith, Carolyn Dunn, Lionel Willatt
The 3q29 microdeletion syndrome is caused by a recurrent 1.6 Mb deletion of the 3q subtelomeric region. Though sometimes visible on routine microscopy, the deletion is detected more reliably using subtelomeric fluorescence in-situ hybridization (FISH) or molecular karyotyping. The clinical features associated with a 3q29 microdeletion are variable and include developmental delay, autistic features, skeletal abnormalities and dysmorphic facial features with a relatively long face, long nose with a high bridge and broad tip, short philtrum and large ears...
July 2010: Clinical Dysmorphology
Eul-Ju Seo, Kyung Ran Jun, Han-Wook Yoo, Hanik K Yoo, Jin-Ok Lee
BACKGROUND: The 3q29 microdeletion syndrome is a genomic disorder characterized by mental retardation, developmental delay, microcephaly, and slight facial dysmorphism. In most cases, the microdeletion spans a 1.6-Mb region between low-copy repeats (LCRs). We identified a novel 4.0- Mb deletion using oligonucleotide array comparative genomic hybridization (array CGH) in monozygotic twin sisters. METHODS: G-banded chromosome analysis was performed in the twins and their parents...
February 2010: Korean Journal of Laboratory Medicine
Maria Cristina Digilio, Laura Bernardini, Rita Mingarelli, Rossella Capolino, Anna Capalbo, Maria Grazia Giuffrida, Paolo Versacci, Antonio Novelli, Bruno Dallapiccola
The 3q29 microdeletion syndrome (del 3q29) is a novel genomic disorder identified after the introduction of microarray-based technology. The phenotype of the reported patients is variable, including mental retardation and subtle facial anomalies. We report on two mother-daughter pairs, heterozygous for 3q29, and review clinical features of all known affected individuals. Del 3q29 syndrome is associated with nonspecific clinical features, including mild-to-moderate developmental delay, microcephaly, and mild facial dysmorphisms such as short philtrum and high nasal bridge...
August 2009: American Journal of Medical Genetics. Part A
Feng Li, Emily C Lisi, Elizabeth S Wohler, Ada Hamosh, Denise A S Batista
An inherited, interstitial subtelomere deletion of approximately 1.3-1.4 Mb at 3q29 was identified in a patient and his father utilizing BAC array comparative genomic hybridization (a-CGH). The imbalance was located within the common 3q29 microdeletion syndrome region and shared the distal breakpoint with prior published cases. However, our patient was developmentally normal at 6 months of age and his father is a functional adult, who had mild developmental delay in childhood. They presented with congenital cardiac defects including patent ductus arteriosus...
September 2009: European Journal of Medical Genetics
M Pollazzon, S Grosso, F T Papa, E Katzaki, A Marozza, M A Mencarelli, V Uliana, P Balestri, F Mari, A Renieri
We describe a de novo 3q27.3q29 deletion in a 2.5-year-old female patient with developmental and growth delay, dysmorphic facial features, mild tricuspid valve dysplasia, bifid thumb, clinodactyly of the 2nd toe bilaterally and scoliosis. The deletion overlaps for about 1Mb with the 1.6Mb region commonly deleted in patients with 3q29 microdeletion syndrome. The phenotype of the two syndromes is not completely overlapping, though the most important clinical features, such as mental retardation and microcephaly, occur in both...
March 2009: European Journal of Medical Genetics
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