scholarly journals Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Maryam Sedghi ◽  
Hossein Abdali ◽  
Mehrdad Memarzadeh ◽  
Mansoor Salehi ◽  
Narges Nouri ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Genetic Counselors ◽  
Chromosome 22 ◽  
Microdeletion Syndromes ◽  
Low Copy Repeats ◽  
Phenotypic Features ◽  
Genetic Assessment ◽  
First Time ◽  
22Q11.2 Microduplication

Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements. A variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the genetic counselors to recommend appropriate genetic assessment and counseling for the patients. In this study, multiplex ligation probe dependent amplification (MLPA) analysis was performed on 378 patients with cleft lip and/or palate to characterize rearrangements in patients suspected of 22q11.2 microduplication and microdeletion syndromes. Of 378 cases, 15 were diagnosed with a microdeletion with various sizes and 3 with duplications. For the first time in this study an atypical 0.6 Mb duplication is reported. Illustration of the phenotypes associated with the microduplications increases the knowledge of phenotypes reported in the literature.

The Parental Dentocraniofacial Phenotype—An Orofacial Clefting Microform

2010 ◽  
Vol 47 (1) ◽  
pp. 22-34 ◽  
Author(s):  
Peter A. Mossey ◽  
Puneet Batra ◽  
Grant T. McIntyre
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Global Strategy ◽  
Reference Database ◽  
Inclusion Criteria ◽  
Orofacial Clefting ◽  
Phenotypic Features ◽  
Isolated Cleft Palate ◽  
Pro Forma

Objective Using the systematic review method, (1) to identify the investigations of the parental dentocraniofacial phenotype in orofacial clefting, (2) synthesize the data to derive a model of the phenotypic features that will assist in the identification of cleft morphogenes, and (3) make recommendations for the future global strategy for researching the parental craniofacial phenotype in orofacial clefting. Search Strategy The Cochrane, Medline (via PubMed and OVID platforms [1966 to December 2006]), Embase, CINAHL, and ASKSAM Orthodontic Reference Database (1950–1997) databases were searched using a combination of the following keywords: microform, parent, craniofacial, dental, and cleft. All published articles were reviewed. There were no exclusions of non-English reports. Of the 36 studies identified using this strategy, 26 met the inclusion criteria. Data Abstraction/Synthesis The statistically significant data were abstracted using a pro forma, and the methodological quality of the selected studies was evaluated using a checklist. There was considerable heterogeneity among the studies, and therefore it was not possible to synthesize the data. We were, however, able to collate the data. Results/Conclusions (1) The craniofacial phenotype possessed by parents of children with orofacial clefting is distinctive when compared with that of the noncleft population. (2) There is insufficient evidence to produce a model of the phenotypic features to assist in the search for orofacial clefting morphogenes. (3) The pattern of expression of the phenotypic features identified to date supports the contention that there are differences in the inheritance of cleft lip with or without cleft palate and isolated cleft palate. Progress in this field is affected by extreme heterogeneity in etiology of cleft lip with or without cleft palate, as well as heterogeneity in study design. (4) Subphenotyping using features such as microforms should be employed to reduce the heterogeneity and to improve the power of future genetic investigations and will also assist in clinical management and genetic counseling for families.

scholarly journals First report of Penicillium brasilianum Bat., P. cluniae Quintan., and P. echinulonalgiovense S. Abe ex Houbraken & R.N. Barbosa (Eurotiales, Aspergillaceae) as endophytes from a bromeliad in the Caatinga dry forest in Brazil

Check List ◽  
2020 ◽  
Vol 16 (4) ◽  
pp. 1055-1061
Author(s):  
Karla T.L.S. Freire ◽  
Gianne R. Araújo-Magalhães ◽  
Sandy S. Nascimento ◽  
Laura M. Paiva ◽  
Renan N. Barbosa ◽  
...  
Keyword(s):  
Fungal Diversity ◽  
Dry Forest ◽  
Species Determination ◽  
Beta Tubulin ◽  
First Report ◽  
Typical Morphology ◽  
Phenotypic Features ◽  
First Time ◽  
Penicillium Brasilianum

Penicillium brasilianum Bat., P. cluniae Quintan., and P. echinulonalgiovense S. Abe ex Houbraken & R.N. Barbosa are reported for the first time as endophytes from the leaves of an endemic bromeliad in the Caatinga dry forest in Brazil. For species determination, phenotypic features were analysed along with the sequencing of the β-tubulin and calmodulin genes. Penicillium Link isolates obtained in this study showed the typical morphology of species in the Lanata-Divaricata section. These results contributed to increase the knowledge of fungal diversity in dry environments in the word.

scholarly journals Formation of human long intergenic non-coding RNA genes and pseudogenes: ancestral sequences are key players

2019 ◽  
Author(s):  
Nicholas Delihas
Keyword(s):  
Protein Gene ◽  
Repeat Sequence ◽  
Chromosome 22 ◽  
Segmental Duplications ◽  
Repeat Sequences ◽  
Ancestral Sequences ◽  
Non Coding Rna ◽  
Low Copy Repeats ◽  
Genomic Element ◽  
Rna Genes

AbstractPathways leading to formation of non-coding RNA and protein genes are varied and complex. We report finding a highly conserved repeat sequence present in both human and chimpanzee genomes that appears to have originated from a common primate ancestor. This sequence is repeatedly copied in human chromosome 22 (chr22) low copy repeats (LCR22) or segmental duplications and forms twenty-one different genes, which include human long intergenic non-coding RNA (lincRNA) gene and pseudogene families, as well as the gamma-glutamyltransferase (GGT) protein gene family and the RNA pseudogenes that originate from GGT sequences. In sharp contrast, only predicted protein genes stem from the homologous repeat sequence present in chr22 of chimpanzee. The data point to an ancestral DNA sequence, highly conserved through evolution and duplicated in humans by chromosomal repeat sequences that serves as a functional genomic element in the development of new and diverse genes in humans and chimpanzee.

Cleft Lip in Oculodentodigital Dysplasia Suggests Novel Roles for Connexin43

2012 ◽  
Vol 91 (7_suppl) ◽  
pp. S38-S44 ◽  
Author(s):  
K. Amano ◽  
M. Ishiguchi ◽  
T. Aikawa ◽  
M. Kimata ◽  
N. Kishi ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Heterozygous Mutation ◽  
Epithelial Tissue ◽  
Direct Sequence ◽  
Cx43 Expression ◽  
Bilateral Cleft Lip ◽  
Direct Sequence Analysis ◽  
Epithelial Fusion ◽  
First Time ◽  
Oculodentodigital Dysplasia

Oculodentodigital Dysplasia (ODDD) is a rare syndrome involving anomalies in eye, tooth, and digit formation, caused by mutations in CX43/ GJA1. In addition to classic dental features, ODDD includes oral and craniofacial accessory symptoms such as characteristic facial appearance and cleft palate. However, there have been no reports of ODDD accompanied by cleft lip. Herein we report, for the first time, a male, sporadic, Asian proband presenting bilateral cleft lip. By direct sequence analysis, our proband was diagnosed as having ODDD with a heterozygous mutation, codon 142 G>A in GJA1 and CX43E48K. We excluded the possibility of pathogenic mutations in B3GALTL, BMP4, TFAP2A, PVRL1, IRF6, and MSX1. To address how CX43/ GJA1 is related to cleft lip, we performed immunohistochemistry using mouse and human mid-facial tissue. CX43 expression was detected in the nasal compartment and nasal and maxillary processes at murine developmental stage E12.5. Furthermore, CX43 expression was found in the epithelial tissue inside the human subepithelial cleft lip that completes epithelial fusion. Therefore, we suggest that CX43/ GJA1 is involved in lip formation. Our case report of ODDD with a bilateral cleft lip suggests that CX43/ GJA1 might be a novel candidate gene for syndromic cleft lip.

scholarly journals Current data on the characterization of oral clefts in Brazil

2004 ◽  
Vol 18 (2) ◽  
pp. 128-133 ◽  
Author(s):  
José Alberto de Souza Freitas ◽  
Gisele da Silva Dalben ◽  
Milton Santamaria Júnior ◽  
Patrícia Zambonato Freitas
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Female Gender ◽  
Current Data ◽  
Secondary Palate ◽  
Isolated Cleft Palate ◽  
Year 2000 ◽  
First Time

This study aimed at investigating the current distribution of the several types of clefts among the patients receiving treatment at the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC-USP), Bauru, Brazil, for the first time during the year 2000. A total of 803 unoperated patients with cleft lip and/or palate, with or without additional malformations, with no recognizable syndromes, who came to the HRAC-USP for enrollment for treatment during the year 2000. A predominance of complete cleft lip and palate, either unilateral or bilateral, was observed (37.1%), followed by isolated cleft palate (31.7%) and isolated cleft lip (28.4%). A discrete relationship between cleft palate and the female gender was noticed (53%), and males were more affected by the other types of clefts (around 60%). The findings revealed a predominance of complete clefts of the primary and secondary palate, the treatment of which is more complex, and whose frequency is greater in males.

scholarly journals 22q11.2 Microduplication: An Enigmatic Genetic Disorder

2018 ◽  
Vol 07 (03) ◽  
pp. 138-142 ◽  
Author(s):  
Ranjit Kylat
Keyword(s):  
Cleft Palate ◽  
Genetic Disorder ◽  
Clinical Signs ◽  
Prenatal Ultrasound ◽  
Chromosome 22 ◽  
Pierre Robin Sequence ◽  
Extra Copy ◽  
The Real ◽  
Pierre Robin ◽  
22Q11.2 Microduplication

AbstractMicroduplication of 22q11.2 involves having an extra copy at position q11.2 on chromosome 22. Very few cases have been reported but the real incidence may be higher as the absence of obvious clinical signs makes diagnosis difficult. In the cases that are diagnosed, the phenotype is extremely variable. We describe a case of severe micrognathia, cleft palate, and Pierre-Robin sequence. A prenatal ultrasound showed severe micrognathia and subsequent microarray done on amniocentesis revealed the microduplication of 22q11.2, which was confirmed postnatally. Although micrognathia has often been detected in this microduplication, the constellation of these findings has not been previously described.

Duplication of the 22q11.2 region associated with congenital cardiac disease

2005 ◽  
Vol 15 (2) ◽  
pp. 229-231 ◽  
Author(s):  
Rebecca Sparkes ◽  
Judy Chernos ◽  
Franciscus Dicke
Keyword(s):  
Clinical Significance ◽  
Cardiac Disease ◽  
Gene Dosage ◽  
Genetic Defect ◽  
Velocardiofacial Syndrome ◽  
Chromosome 22 ◽  
Heterozygous Deletion ◽  
Genomic Deletion ◽  
Microdeletion Syndromes ◽  
Congenital Cardiac Disease

The DiGeorge, or velocardiofacial, syndrome has been aetiologically linked to heterozygous deletion of the q11.2 region of chromosome 22. It is the most common of the microdeletion syndromes, and is associated with malformations involving the ventricular outflow tracts. Duplication of the 22q11.2 region has also been reported, adding to a growing list of syndromes involving genomic deletion or duplication that cause disease by decreasing or increasing the gene dosage. We report two cases of congenital cardiac disease associated with microduplications of 22q11.2, and discuss the evidence to date for the potential clinical significance of this genetic defect.

Innate immunity phenotypic features point toward simultaneous raise of activation and modulation events following 17DD live attenuated yellow fever first-time vaccination

Vaccine ◽  
2008 ◽  
Vol 26 (9) ◽  
pp. 1173-1184 ◽  
Author(s):  
Marina Ângela Martins ◽  
Maria Luiza Silva ◽  
Silvana Maria Elói-Santos ◽  
José Geraldo Leite Ribeiro ◽  
Vanessa Peruhype-Magalhães ◽  
...  
Keyword(s):  
Innate Immunity ◽  
Yellow Fever ◽  
Phenotypic Features ◽  
First Time

scholarly journals Cleft lip & palate surgery "where do we stand in the 21st century?" based on study of referral patterns to a tertiary care centre

2016 ◽  
Vol 12 (1) ◽  
Author(s):  
Moazzam Nazeer Tarar ◽  
Farrukh Mahmood ◽  
Falak S Malik ◽  
Salman A Khan ◽  
Kamran Khalid ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Revisional Surgery ◽  
Tertiary Care ◽  
Multidisciplinary Care ◽  
Tertiary Care Centre ◽  
Cleft Lip Palate ◽  
Study Methodology ◽  
Draw Conclusion ◽  
A Prospective Study ◽  
First Time

A prospective study was carried out over the period of six years including 215 patients. The objective of this study has been to evaluate the types of the clefts, their predisposing factors, age at first presentation and need for revisional surgery and to compare these with published studies on the subject and to draw conclusion about the epidemiology and the facilities available for its surgical correction. Design: Prospective, observational study. Methodology: 215 patients were evaluated over a period of six years by filling a proforma, which was entered into database. Different parameters were evaluated. Conclusion: There are a significant number of cleft patients presenting for first time above the age of 10 years. A large number of inappropriately treated patients require revisional surgery because of lack of properly trained cleft surgeons. Due to lack of specialized cleft care teams in our country no patient in this study could get comprehensive care for this deformity. It is need of the hour to pr ovide multidisciplinary care to these patients.

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