scholarly journals Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia

2016 ◽  
Vol 2016 ◽  
pp. 1-7
Author(s):  
Semiha Kurt ◽  
Betul Cevik ◽  
Durdane Aksoy ◽  
E. Irmak Sahbaz ◽  
Aslı Gundogdu Eken ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Female Patient ◽  
Friedreich Ataxia ◽  
Repeat Expansion ◽  
Intensity Increase ◽  
Cerebral Lesions ◽  
Cavum Septum Pellucidum ◽  
Cardiac Symptoms ◽  
The Family ◽  
Gaa Repeat Expansion

Here, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia (FRDA) and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardiac involvement and presenting with similar symptoms, although genetic testing was negative for the GAA repeat expansion in one patient of the family. The GAA repeat expansion in the frataxin gene was shown in all of the family members except in a young female patient. MRI revealed arachnoid cysts in two patients; MRI was consistent with both cavum septum pellucidum-cavum vergae and nodular signal intensity increase in one patient. EMG showed demyelinating sensorimotor polyneuropathy in another patient. The GAA expansion-negative 11-year-old female patient had mental-motor retardation, epilepsy, and ataxia. None of the patients had significant cardiac symptoms. Description of FRDA families with different ethnic backgrounds may assist in identifying possible phenotypic and genetic features of the disease. Furthermore, the genetic heterogeneity observed in this family draws attention to the difficulty of genetic counseling in an inbred population and to the need for genotyping all affected members before delivering comprehensive genetic counseling.

scholarly journals Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare

2018 ◽  
Vol 12 ◽  
Author(s):  
Sahar Al-Mahdawi ◽  
Heather Ging ◽  
Aurelien Bayot ◽  
Francesca Cavalcanti ◽  
Valentina La Cognata ◽  
...  
Keyword(s):  
Friedreich Ataxia ◽  
Repeat Expansion ◽  
Gaa Repeat Expansion

scholarly journals GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

Genomics ◽  
2006 ◽  
Vol 88 (5) ◽  
pp. 580-590 ◽  
Author(s):  
Sahar Al-Mahdawi ◽  
Ricardo Mouro Pinto ◽  
Dhaval Varshney ◽  
Lorraine Lawrence ◽  
Margaret B. Lowrie ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Mouse Models ◽  
Friedreich Ataxia ◽  
Repeat Expansion ◽  
Cardiac Pathology ◽  
Repeat Expansion Mutation ◽  
Gaa Repeat Expansion ◽  
Expansion Mutation

scholarly journals Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1511
Author(s):  
Tatyana V. Karamysheva ◽  
Tatyana A. Gayner ◽  
Vladimir V. Muzyka ◽  
Konstantin E. Orishchenko ◽  
Nikolay B. Rubtsov
Keyword(s):  
Genetic Counseling ◽  
Chromosome Rearrangement ◽  
Marker Chromosome ◽  
Reproductive Function ◽  
Small Supernumerary Marker Chromosome ◽  
Comprehensive Chromosome Screening ◽  
The Family ◽  
Multicolor Banding ◽  
The One

For medical genetic counseling, estimating the chance of a child being born with chromosome abnormality is crucially important. Cytogenetic diagnostics of parents with a balanced karyotype are a special case. Such chromosome rearrangements cannot be detected with comprehensive chromosome screening. In the current paper, we consider chromosome diagnostics in two cases of chromosome rearrangement in patients with balanced karyotype and provide the results of a detailed analysis of complex chromosomal rearrangement (CCR) involving three chromosomes and a small supernumerary marker chromosome (sSMC) in a patient with impaired reproductive function. The application of fluorescent in situ hybridization, microdissection, and multicolor banding allows for describing analyzed karyotypes in detail. In the case of a CCR, such as the one described here, the probability of gamete formation with a karyotype, showing a balance of chromosome regions, is extremely low. Recommendation for the family in genetic counseling should take into account the obtained result. In the case of an sSMC, it is critically important to identify the original chromosome from which the sSMC has been derived, even if the euchromatin material is absent. Finally, we present our view on the optimal strategy of identifying and describing sSMCs, namely the production of a microdissectional DNA probe from the sSMC combined with a consequent reverse painting.

Prenatal Genetic Diagnosis for Pediatricians

PEDIATRICS ◽  
1994 ◽  
Vol 93 (6) ◽  
pp. 1010-1015
Author(s):  
Keyword(s):  
Decision Making ◽  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Diagnostic Tests ◽  
Genetic Disorder ◽  
Genetic Diagnosis ◽  
Decision Making Process ◽  
Know How ◽  
Prenatal Genetic Diagnosis ◽  
The Family

Pediatricians may be called upon to counsel a family in which prenatal diagnosis is being considered or in which there is a fetus with a genetic disorder. In some settings, the pediatrician may be the primary resource for counseling the family. More frequently, counseling may already have been provided by a clinical geneticist and/or obstetrician. However, because of a previous relationship with the family, the pediatrician may be called upon to review this information and to assist the family in the decision-making process. The pediatrician should be familiar with the principles of prenatal genetic diagnosis and know how to apply them to specific problems in genetic counseling, diagnosis, and management in clinical practice. At the same time, pediatricians should be familiar with resources available in their region for obtaining information about whether and how a specific disorder can be diagnosed and when and where to refer patients for prenatal genetic diagnosis. The technology of prenatal diagnosis is changing rapidly, and genetic consultants can assist pediatricians in the appropriate utilization and interpretation of the diagnostic tests that are available.

scholarly journals Clinical features and genetic analysis of two Chinese families with X-linked ichthyosis

2020 ◽  
Vol 48 (10) ◽  
pp. 030006052096229
Author(s):  
Wanqin Xie ◽  
Haiyan Zhou ◽  
Lin Zhou ◽  
Yun Gong ◽  
Jiwu Lin ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Venous Blood ◽  
Mendelian Inheritance ◽  
Hunan Province ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Entire Body ◽  
Chinese Families ◽  
The Family ◽  
Atypical Phenotype

Objective Recessive X-linked ichthyosis (RXLI) caused by deficiency of the steroid sulfatase gene ( STS) has a reported prevalence of 1/2000 to 1/6000. The present study aimed to characterize the phenotypes and genotypes of two Chinese families with RXLI. Methods The patients were referred to the Family Planning Research Institute of Hunan Province for genetic counseling. Their skin phenotypes were photographed, and venous blood was drawn and used for chromosomal microarray analysis (CMA). Results The skin phenotype of the proband from the first family was characterized by generalized skin dryness and scaling, with noticeable dark brown, polygonal scales on his trunk and extensor surfaces of his extremities. The proband from the second family had an atypical phenotype showing mild skin dryness over his entire body, slight scaling on his abdomen, and small skin fissures on his arms and legs. No mental disability or developmental anomaly was noted in either proband. CMA revealed that both probands carried a 1.4-Mb deletion on chromosome Xp22.31 involving four Online Mendelian Inheritance in Man-listed genes including STS. Conclusions Our findings add knowledge to the genotype and phenotype spectrum of RXLI, which may be helpful in genetic counseling and prenatal diagnosis.

Decision support for family history intake to determine eligibility for BRCA testing among multiethnic women.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1586-1586 ◽  
Author(s):  
Julia E. McGuinness ◽  
Meghna S. Trivedi ◽  
Alejandro Vanegas ◽  
Hilary Colbeth ◽  
Rossy Sandoval ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Counseling ◽  
Decision Support ◽  
Genetic Testing ◽  
Family History ◽  
High Risk ◽  
Self Report ◽  
Brca Testing ◽  
The Family ◽  
Brca Genetic Testing

1586 Background: The U.S. Preventive Services Task Force (USPSTF) recommends that women who meet family history criteria for hereditary breast and ovarian cancer (HBOC) be referred for genetic counseling. However, HBOC genetic testing is under-utilized, particularly among racial/ethnic minorities. We evaluated different methods of family history intake, including a validated family history screener, documentation in the electronic health record (EHR), and a web-based decision aid (DA). Methods: Among women undergoing screening mammography, we administered a validated family history screener to determine eligibility for BRCA genetic testing based upon USPSTF guidelines. We developed a patient-centered DA ( RealRisks) which includes modules on breast cancer risk, collection of detailed family history, and information on HBOC genetic testing. Women who met high-risk criteria for breast cancer were enrolled in an intervention trial to determine whether exposure to RealRisks increases referrals for high-risk consultations. BRCA genetic counseling/testing uptake was assessed by self-report and EHR review. Results: From November 2014 to June 2016, 3077 women completed the family history screener. Median age was 59 years (range, 29-99), including 76% Hispanic, 4% Ashkenazi Jewish, and 60% with a high school education or less. 12% met family history criteria for BRCA genetic testing based upon the family history screener, of which only 5.9% had previously undergone genetic counseling or testing. Sixty high-risk women were enrolled to access RealRisks. When family histories based upon the screener, DA, and EHR were compared, 12 (20%) had discrepancies in number of affected relatives, type of cancer, and age at diagnosis which changed eligibility for BRCA testing. Follow-up is ongoing to determine whether the DA facilitates appropriate referrals for genetic counseling. Conclusions: In a population of predominantly Hispanic and less educated women, a large proportion met USPSTF family history criteria for BRCA testing, but uptake of genetic counseling was low. Developing decision support for accurate family history intake is critical to identifying appropriate candidates for genetic referrals.

scholarly journals Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1

2014 ◽  
Vol 26 (1-2) ◽  
pp. 108-117 ◽  
Author(s):  
Oliver P. Forman ◽  
Luisa De Risio ◽  
Kaspar Matiasek ◽  
Simon Platt ◽  
Cathryn Mellersh
Keyword(s):  
Spinocerebellar Ataxia ◽  
Repeat Expansion ◽  
Gaa Repeat Expansion

The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia

2000 ◽  
Vol 78 (11) ◽  
pp. 626-632 ◽  
Author(s):  
Nana Bit-Avragim ◽  
Andreas Perrot ◽  
Ludger Schöls ◽  
Cornelia Hardt ◽  
Friedmar R. Kreuz ◽  
...  
Keyword(s):  
Friedreich’S Ataxia ◽  
Repeat Expansion ◽  
Friedreich's Ataxia ◽  
Intron 1 ◽  
Gaa Repeat Expansion ◽  
Cardiac Manifestation ◽  
Frataxin Gene

Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

1997 ◽  
Vol 41 (5) ◽  
pp. 675-682 ◽  
Author(s):  
Laura Montermini ◽  
Andrea Richeter ◽  
Kenneth Morgan ◽  
Cristina M. Justice ◽  
Dominique Julien ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Friedreich Ataxia ◽  
Repeat Expansion ◽  
Triplet Repeat ◽  
Triplet Repeat Expansion
Sign in / Sign up

Export Citation Format

Share Document