Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency

Biotinidase deficiency is an autosomal recessive metabolic disorder whose diagnosis currently depends on clinical symptoms and a biotinidase enzyme assay. This study aimed to investigate the mutational status and enzymatic activity of biotinidase deficiency in seven unrelated Jordanian families including 10 patients and 17 healthy family members. Amplified DNA was analyzed by the automated Sanger sequencing method, and the enzymatic assay was performed using a colorimetric assessment. Biotinidase level was significantly lower (p < 0.001) in BTD children compare to their non-affected family members. Genetic sequencing revealed six different mutations in Jordanian patients. One mutation was novel and located in exon 4, which could be a prevalent mutation for biotinidase deficiency in the Jordanian population. Identification of these common mutations and combing the enzymatic activity with genotypic data will help clinicians with regard to better genetic counseling and management through implementing prevention programs in the future.

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Rapid Identification and Molecular Characterization of Phytoene Desaturase Mutations in Fluridone-Resistant Hydrilla (Hydrilla verticillata)

Weed Science ◽

10.1614/ws-d-12-00018.1 ◽

2013 ◽

Vol 61 (1) ◽

pp. 32-40 ◽

Cited By ~ 6

Author(s):

Lori K. Benoit ◽

Donald H. Les

Keyword(s):

Gene Mutations ◽

Hydrilla Verticillata ◽

Rapid Identification ◽

Phytoene Desaturase ◽

Wild Type ◽

Herbicide Resistant ◽

Rapid Pcr ◽

Sequencing Method ◽

The Us

Florida hydrilla populations have shown an alarming increase in resistance to fluridone, an herbicide used extensively for controlling invasive US hydrilla populations. A rapid PCR and sequencing method was developed to identify and screen hydrilla genomic DNA for three previously identified phytoene desaturase (pds) gene mutations that confer resistance to fluridone. Ninety hydrilla accessions were screened for fluridone resistant genotypes including 46 accessions from the US and 44 accessions from 15 other countries. In Florida, hydrilla from five of nine sites tested was heterozygous for wild-type and herbicide-resistant alleles. Additionally, a new resistant population was identified from Lake Seminole in Georgia, the first genetically confirmed strain of resistant hydrilla outside of Florida. All resistance-conferring mutations were located on the same homologous haplotype of US dioecious hydrilla. All other hydrilla samples tested possessed only wild type alleles, including monoecious strains that had been exposed to fluridone. Management implications are discussed.

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Faculty Opinions recommendation of Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1162755.624351 ◽

2009 ◽

Author(s):

Robert Dluhy ◽

Florencia Halperin

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Molecular Characterization ◽

Family Members ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

21 Hydroxylase Deficiency

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Cysteine conjugate S-oxidase. Characterization of a novel enzymatic activity in rat hepatic and renal microsomes.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)39303-2 ◽

1990 ◽

Vol 265 (11) ◽

pp. 6139-6145

Author(s):

P J Sausen ◽

A A Elfarra

Keyword(s):

Enzymatic Activity

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Isolation and Characterization of Rat Cytochrome P-450IIB Gene Family Members

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)83538-4 ◽

1989 ◽

Vol 264 (12) ◽

pp. 7046-7053 ◽

Cited By ~ 3

Author(s):

C M Giachelli ◽

J Lin-Jones ◽

C J Omiecinski

Keyword(s):

Gene Family ◽

Family Members ◽

Isolation And Characterization

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Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria

BMC Medical Genomics ◽

10.1186/s12920-021-01014-w ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Lu Cao ◽

Ruixue Zhang ◽

Liang Yong ◽

Shirui Chen ◽

Hui Zhang ◽

...

Keyword(s):

Missense Mutation ◽

Sequence Alignment ◽

Multiple Sequence Alignment ◽

Molecular Genetic ◽

Family Members ◽

Clinical Manifestations ◽

Gene Mutations ◽

Mendelian Inheritance ◽

Chinese Family ◽

Multiple Sequence

Abstract Background Dyschromatosis universalis hereditaria (DUH) is a pigmentary dermatosis characterized by generalized mottled macules with hypopigmention and hyperpigmention. ABCB6 and SASH1 are recently reported pathogenic genes related to DUH, and the aim of this study was to identify the causative mutations in a Chinese family with DUH. Methods Sanger sequencing was performed to investigate the clinical manifestation and molecular genetic basis of these familial cases of DUH, bioinformatics tools and multiple sequence alignment were used to analyse the pathogenicity of mutations. Results A novel missense mutation, c.1529G>A, in the SASH1 gene was identified, and this mutation was not found in the National Center for Biotechnology Information Database of Short Genetic Variation, Online Mendelian Inheritance in Man, ClinVar, or 1000 Genomes Project databases. All in silico predictors suggested that the observed substitution mutation was deleterious. Furthermore, multiple sequence alignment of SASH1 revealed that the p.S510N mutation was highly conserved during evolution. In addition, we reviewed the previously reported DUH-related gene mutations in SASH1 and ABCB6. Conclusion Although the affected family members had identical mutations, differences in the clinical manifestations of these family members were observed, which reveals the complexity of the phenotype-influencing factors in DUH. Our findings reveal the mutation responsible for DUH in this family and broaden the mutational spectrum of the SASH1 gene.

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Molecular characterization of Polychromophilus parasites of Scotophilus kuhlii bats in Thailand

Parasitology ◽

10.1017/s003118202000222x ◽

2020 ◽

pp. 1-5

Author(s):

Chatree Chumnandee ◽

Nawarat Pha-obnga ◽

Oskar Werb ◽

Kai Matuschewski ◽

Juliane Schaer

Keyword(s):

Blood Cells ◽

Clinical Symptoms ◽

Temperate Climate ◽

Diverse Group ◽

Malaria Parasites ◽

Climate Zones ◽

Haemosporidian Parasites ◽

South And Southeast Asia ◽

Molecular Investigation

Abstract Parasites of the haemosporidian genus Polychromophilus have exclusively been described in bats. These parasites belong to the diverse group of malaria parasites, and Polychromophilus presents the only haemosporidian taxon that infects mammalian hosts in tropical as well as in temperate climate zones. This study provides the first information of Polychromophilus parasites in the lesser Asiatic yellow bat (Scotophilus kuhlii) in Thailand, a common vespertilionid bat species distributed in South and Southeast Asia. The gametocyte blood stages of the parasites could not be assigned to a described morphospecies and molecular analysis revealed that these parasites might represent a distinct Polychromophilus species. In contrast to Plasmodium species, Polychromophilus parasites do not multiply in red blood cells and, thus, do not cause the clinical symptoms of malaria. Parasitological and molecular investigation of haemosporidian parasites of wildlife, such as the neglected genus Polychromophilus, will contribute to a better understanding of the evolution of malaria parasites.

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Genetic and Molecular Characterization of the Maizerp3Rust Resistance Locus

Genetics ◽

10.1093/genetics/162.1.381 ◽

2002 ◽

Vol 162 (1) ◽

pp. 381-394 ◽

Cited By ~ 6

Author(s):

Craig A Webb ◽

Todd E Richter ◽

Nicholas C Collins ◽

Marie Nicolas ◽

Harold N Trick ◽

...

Keyword(s):

Family Members ◽

Crossing Over ◽

Resistance Locus ◽

Leucine Rich Repeat ◽

Bac Contig ◽

Puccinia Sorghi ◽

Coding Regions ◽

Complex Locus ◽

Sequence Identities

AbstractIn maize, the Rp3 gene confers resistance to common rust caused by Puccinia sorghi. Flanking marker analysis of rust-susceptible rp3 variants suggested that most of them arose via unequal crossing over, indicating that rp3 is a complex locus like rp1. The PIC13 probe identifies a nucleotide binding site-leucine-rich repeat (NBS-LRR) gene family that maps to the complex. Rp3 variants show losses of PIC13 family members relative to the resistant parents when probed with PIC13, indicating that the Rp3 gene is a member of this family. Gel blots and sequence analysis suggest that at least 9 family members are at the locus in most Rp3-carrying lines and that at least 5 of these are transcribed in the Rp3-A haplotype. The coding regions of 14 family members, isolated from three different Rp3-carrying haplotypes, had DNA sequence identities from 93 to 99%. Partial sequencing of clones of a BAC contig spanning the rp3 locus in the maize inbred line B73 identified five different PIC13 paralogues in a region of ∼140 kb.

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Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes

Clinical Oral Investigations ◽

10.1007/s00784-021-03863-2 ◽

2021 ◽

Author(s):

Theodosia Bartzela ◽

Björn Theuerkauf ◽

Elisabeth Reichardt ◽

Malte Spielmann ◽

Charlotte Opitz

Keyword(s):

Early Identification ◽

Congenital Malformations ◽

Cleft Lip ◽

Phenotypic Variability ◽

Family Members ◽

Pierre Robin Sequence ◽

Associated Malformations ◽

Pierre Robin

Abstract Objectives To clinically characterize patients and family members with cleft lip and/or palate (CL/P) and associated congenital malformations or syndromes and propose possible inheritance patterns. Materials and methods An observational study of patients with CL/P, including medical and family history and intra- and extra-oral examination of their family members, was performed. Results Two hundred sixty-six patients, 1257 family members, and 42 pedigrees were included in the study. The distribution of patients according to the cleft type was 57.9% with CLP, 25.2% with cleft palate (CPO), and 12.8% with cleft lip with/without alveolus (CL/A). Seventy-four (27.8%) patients had associated malformations, and 24 (9.2%) a syndrome. The skeletal (27.7%), cardiovascular (19.3%) systems, and eyes (22.9%) were most commonly affected. Pierre Robin Sequence (7 patients) and van der Woude (4) were the most common syndromes. The majority of patients with CPO (19/24) had an associate syndrome. The families had an average of 2.45 affected members. Conclusion Individual and interfamilial phenotypic variability in patients with CL/P makes the understanding of etiopathogenesis challenging. Clinical relevance The overall prevalence of individuals with CL/P and their pedigrees with associated malformations and syndromes emphasize the need for early identification, interdisciplinary, and long-term planning.

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Pneumococcal Pneumonia and Invasive Pneumococcal Disease in Those 65 and Older: Rates of Detection, Risk Factors, Vaccine Effectiveness, Hospitalisation and Mortality

Geriatrics ◽

10.3390/geriatrics6010013 ◽

2021 ◽

Vol 6 (1) ◽

pp. 13

Author(s):

Roger E. Thomas

Keyword(s):

Risk Factors ◽

Nursing Home ◽

Invasive Pneumococcal Disease ◽

Disease Transmission ◽

Pneumococcal Disease ◽

Pneumococcal Pneumonia ◽

Clinical Symptoms ◽

Disease Incidence ◽

Family Members ◽

Vaccination Rates

Pneumococcal pneumonia (PP) and invasive pneumococcal disease (IPD) are important causes of morbidity and mortality in seniors worldwide. Incidence rates and serious outcomes worsen with increasing frailty, numbers of risk factors and decreasing immune competence with increasing age. Literature reviews in Medline and Embase were performed for pneumococcal disease incidence, risk factors, vaccination rates and effectiveness in the elderly. The introduction of protein-conjugated pneumoccal vaccines (PCV) for children markedly reduced IPD and PP in seniors, but serotypes not included in vaccines and with previously low levels increased. Pneumococcal polysaccharide (PPV23) vaccination does not change nasal and pharyngeal carriage rates. Pneumococcal and influenza vaccination rates in seniors are below guideline levels, especially in older seniors and nursing home staff. Pneumococcal and influenza carriage and vaccination rates of family members, nursing home health care workers and other contacts are unknown. National vaccination programmes are effective in increasing vaccination rates. Detection of IPD and PP initially depend on clinical symptoms and new chest X ray infiltrates and then varies according to the population and laboratory tests used. To understand how seniors and especially older seniors acquire PP and IPD data are needed on pneumococcal disease and carriage rates in family members, carers and contacts. Nursing homes need reconfiguring into small units with air ventilation externally from all rooms to minimise respiratory disease transmission and dedicated staff for each unit to minimise transmision of infectious diseaases.

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