A candidate gene for choanal atresia in alpaca

Genome ◽  
2010 ◽  
Vol 53 (3) ◽  
pp. 224-230 ◽  
Author(s):  
Kent M. Reed ◽  
Miranda M. Bauer ◽  
Kristelle M. Mendoza ◽  
Aníbal G. Armién
Keyword(s):  
Regulatory Gene ◽  
Choanal Atresia ◽  
Clinical Manifestations ◽  
Charge Syndrome ◽  
Abnormal Development ◽  
Whole Genome Sequence ◽  
Sequence Difference ◽  
Coding Region ◽  
Human Sequence ◽  
Chd7 Gene

Choanal atresia (CA) is a common nasal craniofacial malformation in New World domestic camelids (alpaca and llama). CA results from abnormal development of the nasal passages and is especially debilitating to newborn crias. CA in camelids shares many of the clinical manifestations of a similar condition in humans (CHARGE syndrome). Herein we report on the regulatory gene CHD7 of alpaca, whose homologue in humans is most frequently associated with CHARGE. Sequence of the CHD7 coding region was obtained from a non-affected cria. The complete coding region was 9003 bp, corresponding to a translated amino acid sequence of 3000 aa. Additional genomic sequences corresponding to a significant portion of the CHD7 gene were identified and assembled from the 2× alpaca whole genome sequence, providing confirmatory sequence for much of the CHD7 coding region. The alpaca CHD7 mRNA sequence was 97.9% similar to the human sequence, with the greatest sequence difference being an insertion in exon 38 that results in a polyalanine repeat (A12). Polymorphism in this repeat was tested for association with CA in alpaca by cloning and sequencing the repeat from both affected and non-affected individuals. Variation in length of the poly-A repeat was not associated with CA. Complete sequencing of the CHD7 gene will be necessary to determine whether other mutations in CHD7 are the cause of CA in camelids.

scholarly journals De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome

2019 ◽  
Vol 12 ◽  
pp. 117863101983901 ◽  
Author(s):  
Laura Pranckėnienė ◽  
Eglė Preikšaitienė ◽  
Lucie Gueneau ◽  
Alexandre Reymond ◽  
Vaidutis Kučinskas
Keyword(s):  
Umbilical Hernia ◽  
Developmental Disorder ◽  
Autosomal Dominant ◽  
De Novo ◽  
Choanal Atresia ◽  
Sensory System ◽  
Charge Syndrome ◽  
Linea Alba ◽  
Congenital Hernia ◽  
Chd7 Gene

CHARGE syndrome is an autosomal dominant developmental disorder associated with a constellation of traits involving almost every organ and sensory system, in particular congenital anomalies, including choanal atresia and malformations of the heart, inner ear, and retina. Variants in CHD7 have been shown to cause CHARGE syndrome. Here, we report the identification of a novel de novo p.Asp2119_Pro2120ins6 duplication variant in a conserved region of CHD7 in a severely affected boy presenting with 3 and 5 of the CHARGE cardinal major and minor signs, respectively, combined with congenital umbilical hernia, congenital hernia at the linea alba, mildly hypoplastic inferior vermis, slight dilatation of the lateral ventricles, prominent metopic ridge, and hypoglycemic episodes.

CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty

2020 ◽  
Vol 13 (7) ◽  
pp. e233037
Author(s):  
Cheuk Lam Lau ◽  
Yuet Yee Chee ◽  
Brian Hon Yin Chung ◽  
Ming Sum Rosanna Wong
Keyword(s):  
Diagnostic Criteria ◽  
Novel Mutation ◽  
Choanal Atresia ◽  
Charge Syndrome ◽  
Clinical Genetics ◽  
Chd7 Gene ◽  
Swallowing Difficulties ◽  
Major Criterion ◽  
Atypical Phenotype ◽  
Chd7 Mutation

We report a case of CHARGE syndrome with atypical phenotype and a novel mutation in the CHD7 gene. Laryngomalacia and swallowing difficulties are prominent features in this case. These are commonly found in patients with CHARGE syndrome and are well described in previous studies. However, with the traditional diagnostic criteria, diagnosis is difficult without the presence of coloboma or choanal atresia. Early diagnosis is possible with the aid of clinical genetics. The current diagnostic criteria would need to be broadened with the inclusion of pathogenic CHD7 variant status as a major criterion. Further research on the function of CHD7 gene may also give us more insight on the pathogenic mechanism of various clinical features of CHARGE syndrome.

scholarly journals Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion

2015 ◽  
Vol 18 (1) ◽  
pp. 65-70
Author(s):  
Ozlem Giray Bozkaya ◽  
E. Ataman ◽  
C. Randa ◽  
D. Onur Cura ◽  
S. Gürsoy ◽  
...  
Keyword(s):  
Genetic Disease ◽  
Double Point ◽  
Heart Defects ◽  
Choanal Atresia ◽  
Charge Syndrome ◽  
Dna Binding Protein ◽  
The Other ◽  
Novel Mutations ◽  
Chd7 Gene ◽  
Turkish Patients

Abstract The CHARGE (coloboma, heart defects, atresia, retardation, genital, ear) syndrome is a genetic disease characterized by ocular coloboma, choanal atresia or stenosis and semicircular canal abnormalities. Most of the patients clinically diagnosed with CHARGE syndrome have mutations in chromodomain helicase DNA-binding protein 7 (CHD7) gene. The CHD7 gene is located on chromosome 8q12.1, and up to now, there are more than 500 pathogenic mutations identified in the literature. We report two patients diagnosed with CHARGE syndrome with two novel mutations in the CHD7 gene: the first patient has double consecutive novel mutations in three adjacent codons, and the other has a novel insertion.

scholarly journals Combining QTL-seq and linkage mapping to fine map a candidate gene in qCTS6 for cold tolerance at the seedling stage in rice

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Luomiao Yang ◽  
Jingguo Wang ◽  
Zhenghong Han ◽  
Lei Lei ◽  
Hua Long Liu ◽  
...  
Keyword(s):  
Cold Stress ◽  
Cold Tolerance ◽  
Regulatory Gene ◽  
Snp Markers ◽  
Seedling Stage ◽  
Pcr Analysis ◽  
Sequencing Data ◽  
Coding Region ◽  
Rice Varieties ◽  
Major Qtl

Abstract Background Cold stress caused by low temperatures is an important factor restricting rice production. Identification of cold-tolerance genes that can stably express in cold environments is crucial for molecular rice breeding. Results In this study, we employed high-throughput quantitative trait locus sequencing (QTL-seq) analyses in a 460-individual F2:3 mapping population to identify major QTL genomic regions governing cold tolerance at the seedling stage in rice. A novel major QTL (qCTS6) controlling the survival rate (SR) under low-temperature conditions of 9°C/10 days was mapped on the 2.60-Mb interval on chromosome 6. Twenty-seven single-nucleotide polymorphism (SNP) markers were designed for the qCST6 region based on re-sequencing data, and local QTL mapping was conducted using traditional linkage analysis. Eventually, we mapped qCTS6 to a 96.6-kb region containing 13 annotated genes, of which seven predicted genes contained 13 non-synonymous SNP loci. Quantitative reverse transcription PCR analysis revealed that only Os06g0719500, an OsbZIP54 transcription factor, was strongly induced by cold stress. Haplotype analysis confirmed that +376 bp (T>A) in the OsbZIP54 coding region played a key role in regulating cold tolerance in rice. Conclusion We identified OsbZIP54 as a novel regulatory gene associated with rice cold-responsive traits, with its Dongfu-104 allele showing specific cold-induction expression serving as an important molecular variation for rice improvement. This result is expected to further exploration of the genetic mechanism of rice cold tolerance at the seedling stage and improve cold tolerance in rice varieties by marker-assisted selection.

scholarly journals Prenatal Sonographic Features of CHARGE Syndrome

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 415
Author(s):  
Kuntharee Traisrisilp ◽  
Wisit Chankhunaphas ◽  
Rekwan Sittiwangkul ◽  
Chureerat Phokaew ◽  
Vorasuk Shotelersuk ◽  
...  
Keyword(s):  
De Novo ◽  
Heart Defects ◽  
Molecular Genetic ◽  
Choanal Atresia ◽  
Charge Syndrome ◽  
Acoustic Stimulation ◽  
Genetic Mutation ◽  
Suspected Case ◽  
Autosomal Dominant Disorder ◽  
Canal Stenosis

CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers.

Yeast regulatory gene GAL3: carbon regulation; UASGal elements in common with GAL1, GAL2, GAL7, GAL10, GAL80, and MEL1; encoded protein strikingly similar to yeast and Escherichia coli galactokinases

1988 ◽  
Vol 8 (8) ◽  
pp. 3439-3447 ◽  
Author(s):  
W Bajwa ◽  
T E Torchia ◽  
J E Hopper
Keyword(s):  
Gene Expression ◽  
Escherichia Coli ◽  
Regulatory Gene ◽  
Data Bank ◽  
Noncoding Region ◽  
Striking Similarity ◽  
Coding Region ◽  
Reading Frame ◽  
Carbon Regulation ◽  
Sequence Similarities

GAL3 gene expression is required for rapid GAL4-mediated galactose induction of the galactose-melibiose regulon genes in Saccharomyces cerevisiae. Here we show by Northern (RNA) blot analysis that GAL3 gene expression is itself galactose inducible. Like the GAL1, GAL7, GAL10, and MEL1 genes, the GAL3 gene is severely glucose repressed. Like the MEL1 gene, but in contrast to the GAL1, GAL7, and GAL10 genes, GAL3 is expressed at readily detectable basal levels in cells grown in noninducing, nonrepressing media. We determined the sequence of the S. cerevisiae GAL3 gene and its 5'-noncoding region. Within the 5'-noncoding region of the GAL3 gene, we found two sequences similar to the UASGal elements of the other galactose-melibiose regulon genes. Deletion analysis indicated that only the most ATG proximal of these sequences is required for GAL3 expression. The coding region of GAL3 consists of a 1,275-base-pair open reading frame in the direction of transcription. A comparison of the deduced 425-amino-acid sequence with the protein data bank revealed three regions of striking similarity between the GAL3 protein and the GAL1-specified galactokinase of Saccharomyces carlsbergensis. One of these regions also showed striking similarity to sequences within the galactokinase protein of Escherichia coli. On the basis of these protein sequence similarities, we propose that the GAL3 protein binds a molecule identical to or structurally related to one of the substrates or products of the galactokinase-catalyzed reaction.

scholarly journals Genome-wide variations of SARS-CoV-2 infer evolution relationship and transmission route

2020 ◽  
Author(s):  
Lehai Zhang ◽  
Shifu Wang ◽  
Qian Ren ◽  
Junjie Yang ◽  
Yanqin Lu ◽  
...  
Keyword(s):  
Molecular Detection ◽  
Detection Efficiency ◽  
Evolutionary Relationship ◽  
Clinical Manifestations ◽  
Coding Region ◽  
Gene Coding ◽  
Genome Wide ◽  
Group A ◽  
Group B ◽  
Relationship Of

AbstractIn the epidemic evolution of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the issues of mutation, origin, typing and the effect of mutation on molecular detection remain to be unrevealed. In order to identify the evolutionary relationship of SARS-CoV-2 and evaluate the detection efficiency of primers that are currently used in different countries, we retrieved genomic sequences of 373 SARS-CoV-2 strains from multiple databases and performed genome-wide variation analysis. According to the nucleotide C28144T variation, the SARS-CoV-2 can be divided into group A (117 strains) and group B (256 strains). The spike protein gene (S gene) coding region 1841 (total 23403) A1841G, formed a B1 subgroup (40 strains) in group B, of which 30 strains were from European and American countries in March (especially Washington, USA). These mutations are likely to be influenced by the environment or the immunization selection pressure of different populations. Although the mutation is not in the receptor binding region (RBD) and alkaline cleavage region, it may also affect the ability of transmission and pathogenicity; however, the significance is not yet clear. As the ratio of A / B strains in the epidemic months showed an increasing trend (0.35: 1 in January, 0.62: 1 in February and 0.76: 1 in March), it seems that the transmissibility of group A strains becomes stronger with time. Based on the variation of 11 nucleotide sites during the epidemic process, it is speculated that the Washington strain is more like an ancestor type, and the Wuhan strain is the offspring of the group A virus strain. By comparing the detection capabilities of primers in different countries, the SARS-CoV-2 nucleotide variation may only affect molecular detection of very few strains. The differences in the transmissibility, pathogenicity and clinical manifestations of different types of strains require further investigations.

A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia

Blood ◽  
2000 ◽  
Vol 95 (10) ◽  
pp. 3250-3255 ◽  
Author(s):  
Yao Wang ◽  
Yu-Shui Wu ◽  
Pei-Zhen Zheng ◽  
Wen-Xi Yang ◽  
Guo-An Fang ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Novel Mutation ◽  
Cytochrome B5 ◽  
Clinical Manifestations ◽  
Mutant Enzyme ◽  
Chinese Family ◽  
Coding Region ◽  
Cytochrome B5 Reductase ◽  
Nadh Cytochrome

Abstract Recessive congenital methemoglobinemia due to nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase (b5R) deficiency is classified into 2 clinical types: type 1 (erythrocyte type) and type 2 (generalized type). We found a Chinese family with type 1 recessive congenital methemoglobinemia, the patients from which were diagnosed according to clinical symptoms and b5R enzyme activity in the blood cells. To learn the molecular basis of type 1 recessive congenital methemoglobinemia in this Chinese family, we isolated total RNA from the peripheral leukocytes of the propositus and b5R complementary DNA (cDNA) by reverse transcription– polymerase chain reaction (RT-PCR). The coding region of the b5R cDNA was analyzed by sequencing the cloned PCR products. The results showed that the propositus was homozygous for a G→A transition at codon 203 in exon 7, changing a cysteine to a tyrosine (Cys203Tyr). To characterize the mutant enzyme, both glutathione S-transferase (GST)-fused wild-type b5R and GST-fused mutant Cys203Tyr b5R were expressed in Escherichia coli and affinity purified. The results showed that the catalytic activity of the enzyme was not much affected by this amino acid substitution, but the mutant enzyme exhibited decreased heat stability and increased susceptibility to trypsin. These properties of the mutant enzyme would account for the restricted b5R deficiency and mild clinical manifestations of these type 1 patients. The finding of this novel mutation makes codon 203 the only position within the b5R gene at which more than 1 mutation has been found.

Use of Steroid-Eluting Stents after Endoscopic Repair of Choanal Atresia: A Case Series with Review

2020 ◽  
Vol 129 (10) ◽  
pp. 1003-1010
Author(s):  
Lyndy J. Wilcox ◽  
Matthew M. Smith ◽  
Alessandro de Alarcon ◽  
Madison Epperson ◽  
Hayley Born ◽  
...  
Keyword(s):  
Primary Outcome ◽  
Choanal Atresia ◽  
Case Series ◽  
Charge Syndrome ◽  
Primary Outcome Measure ◽  
Drug Eluting Stent ◽  
Inclusion Criteria ◽  
Endoscopic Repair ◽  
Surgical Interventions ◽  
Drug Eluting

Objective(s): To describe a single institution’s experience with the use of steroid-eluting stents after endoscopic transnasal repair of choanal atresia. Methods: A case series with review of children who underwent choanal atresia repair at a tertiary children’s hospital from June 2017 to January 2018 was performed. Those who had a mometasone drug-eluting stent (Propel® Mini, Intersect ENT Inc., Palo Alto, CA) placed after primary or secondary choanal atresia repair at our institution were included. The primary outcome measure was need for revision surgery due to stenosis. Postoperative regimens, duration of stenting, and need for return to the operating room (OR) were also assessed. Results: Five patients with a median age of 22 months at the time of repair met inclusion criteria. Two (40%) had bilateral atresia and 3 (60%) had confirmed CHARGE syndrome. A total of 6 mometasone drug-eluting stents were used in the 5 cases. Three patients were reassessed at least once in the OR; however, the majority (57.1%) of postoperative evaluations were able to be performed in the office or bedside setting. The first and last evaluations occurred a mean of 14 and 124 days after surgery, respectively. There were no instances of restenosis, repeat surgical interventions, or stent-related complications noted. Conclusion: Placement of a mometasone drug-eluting stent is a promising method to improve postoperative results and management of choanal atresia repair by limiting the need for repeat anesthetics and OR procedures, as well as the complications of traditional stents.

Diagnostics and therapy of bilateral choanal atresia in association with CHARGE syndrome

2020 ◽  
pp. 1-8
Author(s):  
T. Koppen ◽  
D. Bartmann ◽  
M. Jakob ◽  
F. Bootz ◽  
A. Müller ◽  
...  
Keyword(s):  
Choanal Atresia ◽  
Charge Syndrome ◽  
Diagnostics And Therapy
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