scholarly journals Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

2015 ◽  
Vol 56 (1) ◽  
pp. 578-586 ◽  
Author(s):  
A. E. Davidson ◽  
E. Borasio ◽  
P. Liskova ◽  
A. O. Khan ◽  
H. Hassan ◽  
...  
Keyword(s):  
Mutation Carrier ◽  
Segregation Analysis ◽  
Brittle Cornea Syndrome

Lung adenocarcinoma in a 34-year-old female SDHB asynptomatic mutation carrier - case report

2017 ◽  
Author(s):  
Maria Joao Matos ◽  
Claudia Costa ◽  
Ana Paula Santos ◽  
Manuel Teixeira ◽  
Carlos Franco ◽  
...  
Keyword(s):  
Case Report ◽  
Lung Adenocarcinoma ◽  
Mutation Carrier

Segregation Analysis of HDL 3 -C Levels in Families of Patients Undergoing Coronary Arteriography at an Early Age

1995 ◽  
Vol 15 (9) ◽  
pp. 1307-1313 ◽  
Author(s):  
J. Coresh ◽  
T.H. Beaty ◽  
V.L. Prenger ◽  
J. Xu ◽  
P.O. Kwiterovich
Keyword(s):  
Segregation Analysis ◽  
Coronary Arteriography ◽  
Early Age

scholarly journals Brittle cornea syndrome: current perspectives

2019 ◽  
Vol Volume 13 ◽  
pp. 1511-1516
Author(s):  
Andrew Walkden ◽  
Emma Burkitt Wright ◽  
Leon Au
Keyword(s):  
Brittle Cornea Syndrome

scholarly journals Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia

2021 ◽  
Vol 22 (15) ◽  
pp. 7842
Author(s):  
Susanne Kohl ◽  
Britta Baumann ◽  
Francesca Dassie ◽  
Anja K. Mayer ◽  
Maria Solaki ◽  
...  
Keyword(s):  
Segregation Analysis ◽  
Molecular Genetic ◽  
Retinal Disease ◽  
Underlying Mechanism ◽  
Recurrence Risk ◽  
Molecular Genetic Analysis ◽  
Recessive Mutation ◽  
Chromosome 2 ◽  
Inherited Retinal Disease ◽  
Uniparental Isodisomy

Achromatopsia (ACHM) is a rare autosomal recessively inherited retinal disease characterized by congenital photophobia, nystagmus, low visual acuity, and absence of color vision. ACHM is genetically heterogeneous and can be caused by biallelic mutations in the genes CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, or ATF6. We undertook molecular genetic analysis in a single female patient with a clinical diagnosis of ACHM and identified the homozygous variant c.778G>C;p.(D260H) in the CNGA3 gene. While segregation analysis in the father, as expected, identified the CNGA3 variant in a heterozygous state, it could not be displayed in the mother. Microsatellite marker analysis provided evidence that the homozygosity of the CNGA3 variant is due to partial or complete paternal uniparental isodisomy (UPD) of chromosome 2 in the patient. Apart from the ACHM phenotype, the patient was clinically unsuspicious and healthy. This is one of few examples proving UPD as the underlying mechanism for the clinical manifestation of a recessive mutation in a patient with inherited retinal disease. It also highlights the importance of segregation analysis in both parents of a given patient or especially in cases of homozygous recessive mutations, as UPD has significant implications for genetic counseling with a very low recurrence risk assessment in such families.

Hereditary polyneuropathy in the Alaskan Malamute

2012 ◽  
Vol 40 (01) ◽  
pp. 26-34 ◽  
Author(s):  
T. Bilzer ◽  
S. Petri ◽  
G. Schanen ◽  
M. Fehr ◽  
O. Distl ◽  
...  
Keyword(s):  
Segregation Analysis ◽  
Nerve Conduction Velocity ◽  
Axonal Degeneration ◽  
Phenotypic Expression ◽  
Disease Status ◽  
Nerve Biopsy ◽  
Hereditary Disease ◽  
Genetic Transmission ◽  
Clinically Normal ◽  
Background Material

Summary Objective: To prove the hypothesis that a polyneuropathy in Alaskan Malamutes has a genetic background. Material and methods: Pedigrees of 131 related Alaskan Malamutes were included in the current study. Neurological examination, electrodiagnosis as well as muscle and nerve biopsies could be performed in 10 dogs. Information about the disease status of the other 121 Alaskan Malamutes were supplied by referring veterinarians, breeders and owners. Segregation analysis using four different models (monogenic, polygenic, mixed monogenicpolygenic and the phenotypic model) was performed on 71 dogs to test the different mechanisms of genetic transmission. Results: In seven clinically affected dogs abnormal electromyographic findings and reduced nerve conduction velocity were detected. Suspected diagnosis of polyneuropathy was confirmed by nerve biopsy results, characterized by axonal degeneration and hypomyelination. Muscle specimens revealed signs of neurogenic myopathy. Three related clinically normal Alaskan Malamutes also displayed moderate neuromuscular changes in histopathology. In the segregation analysis the polygenic model proved as best suitable to explain the observed segregation pattern among all other models tested. Conclusion: The current study could demonstrate that polyneuropathy in Alaskan Malamutes is a hereditary disease with variable phenotypic expression ranging from severely affected to subclinical forms, which has to be considered in future gene analysis studies.

scholarly journals Evidence for a Mendelian gene in a segregation analysis of generalized radiographic osteoarthritis: The Framingham study

1998 ◽  
Vol 41 (6) ◽  
pp. 1064-1071 ◽  
Author(s):  
David T. Felson ◽  
Nat N. Couropmitree ◽  
Christine E. Chaisson ◽  
Marian T. Hannan ◽  
Yuqing Zhang ◽  
...  
Keyword(s):  
Segregation Analysis ◽  
Framingham Study ◽  
Radiographic Osteoarthritis ◽  
Mendelian Gene

Segregation Analysis of Schizophrenia under a Mixed Genetic Model

1980 ◽  
Vol 30 (6) ◽  
pp. 350-356 ◽  
Author(s):  
C.L. Carter ◽  
C.S. Chung
Keyword(s):  
Segregation Analysis ◽  
Genetic Model

Genetic epidemiology of duchenne muscular dystrophy in Japan: Classical segregation analysis

1987 ◽  
Vol 4 (6) ◽  
pp. 425-432 ◽  
Author(s):  
Masao Kanamori ◽  
Newton E. Morton ◽  
Keiko Fujiki ◽  
Kiyotaro Kondo ◽  
D. C. Rao ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Genetic Epidemiology ◽  
Segregation Analysis
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