Discordant phenotypic expression of Alport syndrome in monozygotic twins

2004 ◽  
Vol 62 (10) ◽  
pp. 313-318 ◽  
Author(s):  
H. Matsukura ◽  
A. Higuchi ◽  
A. Ieki ◽  
T. Miyawaki
Keyword(s):  
Alport Syndrome ◽  
Phenotypic Expression ◽  
Monozygotic Twins

scholarly journals Different phenotypic expression in monozygotic twins with Huntington disease

2003 ◽  
Vol 124A (1) ◽  
pp. 89-91 ◽  
Author(s):  
M.H. Anca ◽  
E. Gazit ◽  
R. Loewenthal ◽  
O. Ostrovsky ◽  
M. Frydman ◽  
...  
Keyword(s):  
Huntington Disease ◽  
Phenotypic Expression ◽  
Monozygotic Twins

Different phenotypic expression of fabry disease in female monozygotic twins

1991 ◽  
Vol 14 (1) ◽  
pp. 105-106 ◽  
Author(s):  
T. Levade ◽  
F. Giordano ◽  
A. Maret ◽  
M.-C. Marguery ◽  
J. Bazex ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Phenotypic Expression ◽  
Monozygotic Twins

scholarly journals Variable phenotypic expression of Apert syndrome in monozygotic twins

2018 ◽  
Vol 7 (1) ◽  
pp. 54-57 ◽  
Author(s):  
Matthieu Dap ◽  
Pascale Bach-Segura ◽  
Charline Bertholdt ◽  
Didier Menzies ◽  
Jean-Pierre Masutti ◽  
...  
Keyword(s):  
Phenotypic Expression ◽  
Monozygotic Twins ◽  
Apert Syndrome

Relationship of birth weight to the phenotypic expression of Gilles de la Tourette's syndrome in monozygotic twins

Neurology ◽  
1992 ◽  
Vol 42 (3) ◽  
pp. 652-652 ◽  
Author(s):  
T. M. Hyde ◽  
B. A. Aaronson ◽  
C. Randolph ◽  
K. C. Rickler ◽  
D. R. Weinberger
Keyword(s):  
Birth Weight ◽  
Phenotypic Expression ◽  
Monozygotic Twins ◽  
Tourette's Syndrome ◽  
Tourette’S Syndrome ◽  
Relationship Of

Phenotypic expression of the myotonic dystrophy gene in monozygotic twins

Neurology ◽  
1992 ◽  
Vol 42 (9) ◽  
pp. 1815-1815 ◽  
Author(s):  
J. R. Dubel ◽  
R. M. Armstrong ◽  
M. B. Perryman ◽  
H. F. Epstein ◽  
T. Ashizawa
Keyword(s):  
Myotonic Dystrophy ◽  
Phenotypic Expression ◽  
Monozygotic Twins

scholarly journals Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease.

1997 ◽  
Vol 8 (7) ◽  
pp. 1118-1124 ◽  
Author(s):  
J J Jansen ◽  
J A Maassen ◽  
F J van der Woude ◽  
H A Lemmink ◽  
J M van den Ouweland ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Kidney Disease ◽  
Alport Syndrome ◽  
Phenotypic Expression ◽  
University Hospital ◽  
Diabetic Patients ◽  
Maternal Transmission ◽  
Mitochondrial Trna ◽  
History Of ◽  
Inherited Diabetes

Several studies show an association of a guanine for adenine substitution (A-->G) at position 3243 in mitochondrial DNA (mtDNA) with a recently recognized diabetic subtype designated maternally inherited diabetes and deafness (MIDD). This mutation shows heterogeneity in its phenotypic expression as is apparent from its association with several other syndromes. Screening for the 3243A-->G mutation in mtDNA was performed in those diabetic patients attending the Leiden University Hospital diabetics clinic who had a history of maternally inherited diabetes, sensorineural hearing loss, or both. Four individuals from three unrelated families were identified who suffered from progressive nondiabetic kidney disease in association with diabetes mellitus and hearing loss. The mode of inheritance suggested maternal transmission. The combination of renal failure and hearing loss had been misdiagnosed as Alport syndrome in three of the four individuals. Therefore, in addition to these three families, another 63 unrelated patients with possible Alport syndrome were selected at random. DNA from peripheral blood and other tissues from members of the three families and from the 63 additional Alport syndrome patients was examined for the presence of the 3243A-->G mutation in mtDNA. The mutation was detected in heteroplasmic form in the four patients and their maternal relatives. Also, one of the 63 suspected Alport syndrome patients showed heteroplasmy for the 3243 mutation. These data show the existence of a kidney disease that is characterized by the presence of the A-->G mutation at position 3243 in the mtDNA.

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