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PubMed2003

New patterns of inheritance in mitochondrial disease.

With the identification of a patient with mutated mitochondrial DNA (mtDNA) of paternal origin, it has been unequivocally proven that not only does paternal mtDNA survive in the zygote, but it can also contribute substantially to the mtDNA pool of adult, human skeletal muscle. The questions are: how often does paternal mtDNA inheritance occur and what mechanisms are involved? In this paper, we will review current knowledge on the fate of sperm mitochondria after fertilization and discuss the impact paternal inheritance may have on our understanding of mitochondrial biology.

DNA, Mitochondrial↗
PubMed2004

Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria.

Genetically caused congenital deafness is a common trait affecting 1 in 2000 newborn children and is predominantly inherited in an autosomal recessive fashion. Genes such as the gap junction protein beta 2 (GJB2) encoding for Connexin (Cx26) and GJB6 (Cx30) are known to cause sensorineural deafness. Autosomal recessive deafness has been linked both to the monogenetic occurrence of mutated GJB2 or the GJB6 deletion del(GJB6-D13S1830) and digenic GJB2/del(GJB6-D13S1830) inheritance. Monogenetic GJB2 alterations are responsible for 25.5% of deafness in the eastern Austrian population. An additional 9.8% are heterozygous carriers of a single GJB2 mutation which is not responsible for deafness alone. Del(GJB6-D13S1830) and GJB2/del(GJB6-D13S1830) mutations have been shown to be the second most frequent cause of deafness in different populations. To address the question of the relevance of mutations in GJB6 either as a monogenetic or a digenic GJB2/del(GJB6-D13S1830) cause of deafness in this population, 76 unrelated individuals (33 families and 43 sporadic cases) were screened using PCR strategies. Similar to studies in other hard of hearing populations with similar or lower carrier frequencies of single GJB2 mutations, the presence of del(GJB6-D13S1830) was not detected in any individual within the patient group. Data therefore exclude a digenetic association of del(GJB6-D13S1830) with heterozygous GJB2 mutations as a cause of deafness in a representative sample of the population from Eastern Austria.

Austria↗
PubMed1975

Familial variable immunodeficiency: autosomal dominant pattern of inheritance with variable expression of the defect(s).

In 1963, Rosen and Bougas reported the case of a woman with recurrent infection, marked elevation of 19S, and virtual absence of 7S gamma globulin. Recently, members of her family were found to have similar abnormalities: Ten of the 37 family members tested had elevated levels of serum IgM accompanied by a combined deficiency of IgG and IgA in three, and by a deficiency of either IgG or IgA in two. In five, an increase in IgM was the sole abnormality. Two children had deficiencies of IgG and IgA with normal serum levels of IgM. Ten of the 12 affected individuals had no IgD detectable by radial immunodiffusion and six had a low percentage of IgG-bearing B lymphocytes. A lack of correlation between the immunochemical abnormalities and either the presence or severity of clinical illness was observed. The presence of immunodeficiency in three generations and in both sexes of this family suggests an autosomal dominant mode of inheritance with variable penetrance of the defect.

Adolescent↗
PubMed1998

Patterns of inheritance and outcome in patients treated with external beam radiation for prostate cancer.

OBJECTIVES: To evaluate biochemical outcome after definitive radiotherapy as a function of family history groupings. METHODS: Biochemical freedom from disease for 920 men treated for prostate cancer with external beam radiation alone between March 1987 and December 1997 was compared according to hereditary/familial history (PFH) and sporadic family history. To adjust for known predictors of biochemical outcome, 97 PFH patients were randomly matched 2:1 to 194 sporadic patients according to age, grade, pretreatment prostate-specific antigen level, and palpation stage and compared in terms of biochemical outcome. Cox multivariate regression analyses were also performed to identify independent predictors of outcome in the two patient populations. RESULTS: In both patient populations, univariate analysis of biochemical outcome demonstrated no difference according to family history groupings. After adjusting for known predictors of biochemical outcome, multivariate analysis confirmed the nonsignificant univariate findings. CONCLUSIONS: No difference was found in this study between patients with a PFH (combined hereditary and familial) and patients with the sporadic form of prostate cancer. Recent published reports are conflicting and the question of whether a genetic change influencing prostate cancer causation is associated with factors altering treatment response should be addressed using a multi-institutional, carefully documented, prospective family history data collection and outcome analysis.

Aged↗
PubMed1975

Bilateral Wilms' tumour. Age at diagnosis, associated congenital anormalies, and possible pattern of inheritance.

A series of 87 patients with Wilms' tumour seen during the period 1960-73 included 11 (13%) with bilateral tumours. 6 patients presented with simultaneous bilateral tumours, 2 had tumours in each side of a horseshoe kidney, and 3 later developed a tumour in the remaining kidney. There was no reported familial incidence of Wilms' tumour. Maternal age at birth of the patients with simultaneous bilateral tumours was over 30 years in 7/8 cases. The average of patients with bilateral tumours was 15 months, whereas that of patients with unilateral tumours was 31/2 years. All the simultaneously occurring bilateral tumours and those within a horseshoe kidney were multifocal, whilst the sequentially occurring bilateral tumours and the unilateral tumours all developed as a single tumour mass within the affected kidney. Associated congenital anomalies were found in 5 (45%) of 11 patients with bilateral tumours, several of whom had more than one defect. Of 76 patients with a unilateral tumour, only 3 (4%) had congenital anomalies.

Age Factors↗
PubMedDate not supplied

Genetic analysis of natural populations of Poeciliopsis monacha: Allozyme inheritance and pattern of mating.

The genetic bases of seven polymorphic enzymes in Poeciliopsis monacha have been demonstrated through the analysis of allelic segregation in presumed heterozygotes captured in natural populations. Tests of linkage among loci revealed a significant association between two loci, Ldh-1 and Idh-2. Evidence for multiple insemination was detected in 23 percent of the females examined. Considering the limited number of markers available in the present study, it is probably that the actual frequency of multiple insemination is much higher.

Alleles↗
PubMed1980

Apparently changing patterns of inheritance in Alport's hereditary nephritis: genetic heterogeneity versus altered diagnostic criteria.

With the use of more stringent diagnostic criteria, it has recently been shown that some large pedigrees of Alport's and non-Alport's hereditary nephritis fit sex-linked dominant inheritance (O'Neill et al. 1978). We have used similar diagnostic criteria and have studied a number of Michigan pedigrees in order to see if this hypothesis would be confirmed. We found one small pedigree which definitely shows male-to-male transmission, while one large pedigree is tentatively compatible with sex-linked dominant inheritance. Many of the other pedigrees suggested male-to-male transmission. This Michigan experience is compared to other published reports and found to be consistent, although a trend of fewer reports of male-to-male transmission is seen. We conclude that genetic heterogeneity of Alport's hereditary nephritis is likely.

Female↗