scholarly journals LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Ivanka Dimova ◽  
Ivo Kremensky
Keyword(s):  
Nonsense Mutation ◽  
Correct Diagnosis ◽  
Pathogenic Mutation ◽  
Orphan Drugs ◽  
Muscle Dystrophy ◽  
Nonsense Mutations ◽  
Reproductive Risk ◽  
Recessive Type ◽  
The Family ◽  
Clinical Diagnoses

Congenital muscle dystrophies (CMD) are genetically and clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance. The most common form worldwide is considered to be merosin-deficient muscle dystrophy type 1A, called MDC1A (due to laminin-α2 defects as a result of LAMA2 gene mutation), accounting for 30-40% of total cases of CMD. The exact molecular and clinical diagnoses, respectively, are a prerequisite for the most effective treatment; sometimes orphan drugs exist for some rare diseases. One of such drugs is Tarix, which was FDA approved and announced in 2016 for treatment of MDC1A. Here we present a patient diagnosed postmortem as having early-onset LAMA2-related muscular dystrophy as a result of mutations in LAMA2, identified by Sanger sequencing in his parents: a novel nonsense mutation c.4452T>A in exon 31, identified in the mother, and a known pathogenic nonsense mutation c.2901C>A in exon 21, detected in the father. The truncating nature of both nonsense mutations made the clinical presentation severe and the outcome fatal. Genetic analysis in such cases of muscle dystrophy is of utmost impact, because it makes the correct diagnosis with at least some specific options for treatment, makes the prognosis depending on the severity of mutation discovered, determines reproductive risk, and offers prophylaxis in the family by means of prenatal or preimplantation diagnostics.

scholarly journals Haematological reference of snakes: Amazon tree boa (Corallus hortulanus, Linnaeus, 1758) and Burmenese Python (Python bivittatus, Kuhl, 1820) in captive

2018 ◽  
Vol 70 (4) ◽  
pp. 1172-1178
Author(s):  
A.E. Quadrini ◽  
V.C. Garcia ◽  
B.C. Freire ◽  
M.F.M. Martins
Keyword(s):  
Blood Count ◽  
Complete Blood Count ◽  
Leukocyte Count ◽  
Differential Leukocyte Count ◽  
Healthy State ◽  
The Family ◽  
In Captivity ◽  
Clinical Diagnoses ◽  
Maintenance Techniques ◽  
Python Bivittatus

ABSTRACT Hematology has become important for making clinical diagnoses in snakes because maintenance techniques in captivity have been improving and increasing their life expectancy. The emergence of diseases in captivity requires the creation of parameters to understand the species in their healthy state. The possible association between the onset of neoplasia, immunosuppression, and viral infection are also important factors to consider. Thus, hematology is a fundamental tool for observing the responses of animals to diseases and treatments. The present study aims to study hematology between two species of snakes and compare the profiles observed with published results. Blood samples were collected from 16 male and female snakes: seven Corallus hortulanus from the family Boidae and nine Python bivittatus from the family Pythonidae belonging to the Biological Museum of the Butantan Institute, São Paulo, Brazil. Complete blood count results including blood smear, total erythrocyte count, leukocytes, and differential leukocyte count were evaluated. The data obtained in this study could help with the diagnosis, the treatment of snakes in captive conditions and in of nature conservation programs.

A novel variant in PAX6 as the cause of aniridia in a Chinese family

2020 ◽  
Author(s):  
Xin Jin ◽  
Wei Liu ◽  
HouBin Huang
Keyword(s):  
Nonsense Mutation ◽  
Novel Mutation ◽  
Causative Mutation ◽  
Chinese Family ◽  
The Novel ◽  
Targeted Next Generation Sequencing ◽  
Iris Defect ◽  
The Family ◽  
Novel Variant ◽  
Pax6 Mutation

Abstract Background: Aniridia is a kind of congenital human panocular anomaly, which is related to PAX6 commonly. Methods: A Chinese Aniridia pedigree underwent ophthalmic examinations, including visual acuity, slit lamp and fundoscopy examination. The targeted next-generation sequencing of Aniridia genes was used to identify the causative mutation. Results: A novel heterozygous PAX6 nonsense mutation c.619A>T (p.K207*) was identified in the Chinese autosomal dominant family with aniridia. Phenotypes related to the novel mutation include nystagmus, iris defect, cataract and absence of macular fovea. Conclusion: The novel nonsense mutation in PAX6 was responsible for aniridia phenotype in the family. which expands the spectrum of the PAX6 mutation and its associated phenotype.

scholarly journals A case report: 46 XY-disorder of sexual development

2019 ◽  
Vol 8 (3) ◽  
pp. 1200
Author(s):  
Tejal Kansara ◽  
Tushar Shah ◽  
Yesha Umbharatwala
Keyword(s):  
Case Report ◽  
Sexual Development ◽  
Multidisciplinary Approach ◽  
Correct Diagnosis ◽  
External Genitalia ◽  
Peripheral Blood Lymphocytes ◽  
Dysmorphic Features ◽  
Disorder Of Sexual Development ◽  
The Family ◽  
Male Karyotype

Authors report a case of a 6-year-old child with syndromic 46, XY disorder of sexual development. From the birth patient was assigned female. Physical examination showed dysmorphic features and ambiguous external genitalia. Cytogenetic analysis of cultured peripheral blood lymphocytes revealed a male karyotype. The result of the chromosomal investigation showing male genetic sex, together with the ambivalent aspect of the external genitalia and gonads that are exclusively testes led to the diagnosis of 46, XY disorder of sexual development. The clinical management will help the child and the family deal effectively with this condition A multidisciplinary approach to this problem involving pediatricians, specialists in the field of endocrinology, genetics, surgery and psychiatry is necessary in order to reach a prompt and correct diagnosis and treatment.

scholarly journals The Advancements in the Early Detection of Zika Virus Infection

2018 ◽  
Vol 10 (10) ◽  
pp. 30
Author(s):  
Sharon Sherry Huang ◽  
Erick Ceasar Huang ◽  
Chao Shen Huang
Keyword(s):  
Zika Virus ◽  
Correct Diagnosis ◽  
Turnover Time ◽  
Cross Reactivity ◽  
Access To Treatment ◽  
The Family ◽  
Timely Access ◽  
Alternative Approaches ◽  
Global Population ◽  
Slow Turnover

The Zika Virus (ZIKV) was propelled to international attention during its outbreak from 2015-2016. Interestingly, the most recent outbreak was not ZIKV’s first, although it proved to be the most widespread and impactful, with millions affected in South America, Asia and Africa. Presently no longer considered a global emergency, ZIKV has managed to invoke fear and realization of the susceptibility of the global population to rapidly evolving viruses. In addition, the difficulty of diagnosing the virus demonstrates a deficiency in a rapid, virus specific, and accurate diagnostic tool for the family of flaviviruses that ZIKV belongs to. This paper reviews the approved identification methods along with an analysis of the advantage and disadvantages of each, as well as emerging alternative approaches in ZIKV diagnosis. Common problems with currently utilized methods include slow turnover time, limited throughput, need for further testing to confirm diagnosis, narrow sample compatibility, and cross reactivity to DENV and other similar viruses, Although newer methods discussed in the paper, namely Electrogenerated Chemiluminescence (ECL) and Reporter Virus Neutralization Test (RVNT), show improvement in throughput quantity, speed, and efficiency, it is not certain whether these tests are virus specific and will not react in the presence DENV. The rapidity of diagnosis is important in ensuring timely access to treatment as well as tracking and containing future possible epidemics, Concurrently, virus specificity is equally crucial in ensuring correct diagnosis. Thus, the challenge lies in finding the balance between the two.

A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2

Cephalalgia ◽  
2019 ◽  
Vol 39 (11) ◽  
pp. 1382-1395
Author(s):  
Wenjing Tang ◽  
Meichen Zhang ◽  
Enchao Qiu ◽  
Shanshan Kong ◽  
Yingji Li ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
Pathogenic Mutation ◽  
Familial Hemiplegic Migraine ◽  
Chinese Family ◽  
Hemiplegic Migraine ◽  
Pathogenic Potential ◽  
The Family

Background ATP1A2 has been identified as the genetic cause of familial hemiplegic migraine type 2. Over 80 ATP1A2 mutations have been reported, but no data from Chinese family studies has been included. Here, we report the first familial hemiplegic migraine type 2 Chinese family with a novel missense mutation. Methods Clinical manifestations in the family were recorded. Blood samples from patients and the unaffected members were collected for whole-exome sequencing to identify the pathogenic mutation. Seven online softwares (SIFT, PolyPhen-2, PROVEAN, PANTHER, MutationTaster2, MutationAssessor and PMut) were used for predicting the pathogenic potential of the mutation. PredictProtein, Jpred 4 and PyMOL were used to analyze structural changes of the protein. The mutation function was further tested by Methylthiazolyldiphenyl-tetrazolium bromide (MTT) assay. Results All patients in the family had typical hemiplegic migraine attacks. Co-segregation of the mutation with the migraine phenotype in four generations, with 10 patients, was completed. The identified novel mutation, G762S in ATP1A2, exhibited the disease-causing feature by all the predictive softwares. The mutation impaired the local structure of the protein and decreased cell viability. Conclusion G762S in ATP1A2 is a novel pathogenic mutation identified in a Chinese family with familial hemiplegic migraine, which causes loss of function by changing the protein structure of the Na+/K+-ATPase α2 subunit.

Amelogenesis Imperfecta

2016 ◽  
Vol 95 (13) ◽  
pp. 1457-1463 ◽  
Author(s):  
M.K. Prasad ◽  
S. Laouina ◽  
M. El Alloussi ◽  
H. Dollfus ◽  
A. Bloch-Zupan
Keyword(s):  
Next Generation Sequencing ◽  
Nonsense Mutation ◽  
Amelogenesis Imperfecta ◽  
Consanguineous Family ◽  
Novel Mutations ◽  
Enamel Defects ◽  
Targeted Next Generation Sequencing ◽  
The Family ◽  
Moroccan Family ◽  
Generation Sequencing

Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of diseases characterized by enamel defects. The authors have identified a large consanguineous Moroccan family segregating different clinical subtypes of hypoplastic and hypomineralized AI in different individuals within the family. Using targeted next-generation sequencing, the authors identified a novel heterozygous nonsense mutation in COL17A1 (c.1873C>T, p.R625*) segregating with hypoplastic AI and a novel homozygous 8-bp deletion in C4orf26 (c.39_46del, p.Cys14Glyfs*18) segregating with hypomineralized-hypoplastic AI in this family. This study highlights the phenotypic and genotypic heterogeneity of AI that can exist even within a single consanguineous family. Furthermore, the identification of novel mutations in COL17A1 and C4orf26 and their correlation with distinct AI phenotypes can contribute to a better understanding of the pathophysiology of AI and the contribution of these genes to amelogenesis.

Cervical arteriovenous anastomosis in one of identical twins

1954 ◽  
Vol 4 (1) ◽  
pp. 71-76 ◽  
Author(s):  
Robert M. Rankin
Keyword(s):  
Physical Violence ◽  
Mental Disease ◽  
Shock Therapy ◽  
Identical Twins ◽  
Arteriovenous Anastomosis ◽  
The Family ◽  
Before And After ◽  
Clinical Diagnoses ◽  
History Of ◽  
Mental Institution

In recent years various surgical procedures have been attempted to improve the cerebral function of mentally retarded or cerebral palsied children. One of these is the anastomosis of the carotid artery and jugular vein in an effort to improve the cerebral blood flow. This has been reported to have some degree of success, but the results are of questionable value because of the necessary lack of suitable controls. In this paper are presented the case histories of such an operation on identical twins, one operated and the second serving as a perfect control.The family history of the twins was significant in that there was a strong history of mental disease on the father's side. Several members of his family had been confined to mental institutions. No clinical diagnoses are known but at least one was known to be a sexual pervert. The father had been in a mental institution before and after the birth of the twins and had received electric shock therapy, with no demonstrable improvement. He also was a sexual pervert. The parents were divorced when the twins were twenty months old. Before and after the divorce the twins and their mother were subjected to physical violence by the father. The twins were said to be extremely fearful of the father. There were no other children, and no other pregnancies.Pregnancy was uneventful. Delivery was at term following a five day labor. Donald, the twin who was subsequently operated, was born first with a birth weight of six pounds, seven ounces. David, born a few minutes later, weighed six pounds, eight ounces.

scholarly journals A Novel GDAP1 Mutation 439delA is Associated with Autosomal Recessive CMT Disease

2006 ◽  
Vol 33 (3) ◽  
pp. 311-316 ◽  
Author(s):  
Domna-Maria Georgiou ◽  
Paschalis Nicolaou ◽  
David Chitayat ◽  
Pantelitsa Koutsou ◽  
Riyana Babul-Hirji ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Sensory Neuropathy ◽  
Pathogenic Mutation ◽  
Chromosome 8 ◽  
Consanguineous Family ◽  
Single Nucleotide ◽  
The Family ◽  
Neuropathological Criteria

Background:Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. Based on neurophysiological and neuropathological criteria CMT has been sub-classified into two main types: demyelinating and axonal. Furthermore, it is genetically heterogeneous with autosomal dominant, autosomal recessive (AR) and X-linked modes of inheritance. Thus far, seven genes have been identified in association with the demyelinating AR-CMT disease. We hereby report our clinical and molecular genetic findings in a consanguineous family with AR-CMT.Methods:Two young sisters with AR-CMT and other non-affected family members were clinically and electrophysiologically evaluated and then molecular genetic investigation was carried out in order to identify the pathogenic mutation.Results:Following an initial indication for linkage of the family to the CMT4A locus on chromosome 8, we sequenced the Ganglioside-induced differentiation-associated protein 1 (GDAP1) gene and identified a single nucleotide deletion in exon 3 that is associated with AR-CMT in the family.Conclusion:We identified a novel GDAP1 439delA mutation that is associated with AR-CMT in a consanguineous family of Iranian descent with two affected young girls and a history in other members of the family.

Sindrome di Werdnig-Hoffmann familiare che include una coppia di gemelli MZ concordanti (un caso di Consulenza Eugenica)

1962 ◽  
Vol 11 (2) ◽  
pp. 113-123
Author(s):  
L. Gedda ◽  
G. Del Porto ◽  
A. Del Porto-Mercuri
Keyword(s):  
Twin Pair ◽  
Monozygotic Twins ◽  
Chromosome Abnormalities ◽  
Family Tree ◽  
Affected Child ◽  
Recessive Type ◽  
The Family ◽  
Werdnig Hoffmann

SUMMARYThe Authors report the eugenic prediction formulated for a couple whose three babies (two of whom were monozygotic twins) had died as a consequence of the syndrome of Werdnig-Hoffmann. Since the two cases of the MZ twin pair represent a single chance combination at conception, and since the indications from the literature and from the family tree in this case indicate a monomeric genotype of a recessive type, the morbid risk for a fourth affected child has been estimated at 25%.The occurrence of concordant W. H. syndrome in MZ cotwins is stressed.No chromosome abnormalities have been revealed by karyotype examination of the parents.

Patients With an Unclassified Genetic Variant in the BRCA1 or BRCA2 Genes Show Different Clinical Features From Those With a Mutation

2005 ◽  
Vol 23 (10) ◽  
pp. 2185-2190 ◽  
Author(s):  
Encarna B. Gómez-García ◽  
Ton Ambergen ◽  
Marinus J. Blok ◽  
Arthur van den Wijngaard
Keyword(s):  
Standard Deviation ◽  
Family History ◽  
Clinical Features ◽  
Predictive Models ◽  
Genetic Variant ◽  
Pathogenic Mutation ◽  
Unclassified Variant ◽  
The Family ◽  
Novel Variants ◽  
Combined Data

Purpose To obtain and compare the probabilities of finding a mutation in the BRCA1 or BRCA2 genes, the clinical features, and the family history among patients with an unclassified variant (UV) and those with a pathogenic mutation. Patients and Methods The study included 70 patients: 24 with a UV (BRCA1, n = 4; BRCA2, n = 19; both, n = 1), and 46 with a mutation (BRCA1, n = 32; BRCA2, n = 14). Two of the UVs were novel variants; the rest had been reported previously as UVs. Probabilities of finding a mutation were retrospectively obtained using BRCAPRO and Myriad II programs. Results The probability to detect a mutation was significantly lower in the group of patients with a UV than in those with a mutation (BRCAPRO [mean ± standard deviation], 0.297 ± 0.312 v 0.627 ± 0.315, P = .001; and Myriad II, 0.124 ± 0.090 v 0.283 ± 0.176, P = .001, respectively). Independent predictive factors of finding either a UV or a mutation were number of affected relatives (2.9 ± 1.4 v 4.0 ± 1.9; P = .039) and number of tumors among relatives (3.3 ± 1.4 v 4.4 ± 1.8; P = .031), respectively. Conclusion The combined data about the predictive models show significant differences between both groups. Individual probabilities can be regarded as a help to guide the clinical management of patients with a UV in those genes. However, a definitive conclusion about the pathogenicity of a UV can not be obtained from the clinical features alone, but only in combination with biochemical and epidemiologic data.

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