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PubMed1994

Mineral distribution in the enamel of teeth with amelogenesis imperfecta as determined by quantitative microradiography.

The aim of the present investigation was to determine the mineral distribution in the enamel of teeth with amelogenesis imperfecta (AI) by quantitative microradiography. A further aim was to correlate the findings to clinical manifestations and inheritance patterns for AI. Included in the study were a total of 29 teeth with AI, 28 primary and one permanent, and seven unaffected teeth, five primary and two permanent. Quantitative microradiography was applied to sagittally ground sections, 70-90 microns, of the teeth. The mineral content of the enamel, expressed as percentage by volume, was lower in most of the teeth with AI than in the unaffected teeth. The largest range for the mineral distribution was found in the enamel of the variants clinically characterized by hypomineralization. These teeth showed a mineral distribution pattern that reflected an extremely low mineral content in the bulk of the enamel. In the AI teeth clinically characterized by hypoplasia, the mineral distribution pattern was similar to that of the unaffected teeth, although with larger local variations in mineral content. Apart from the teeth connected with X-linked inheritance, no differences were found among teeth with similar clinical variants connected with different inheritance patterns.

Amelogenesis Imperfecta↗
PubMed1988

Steatocystoma multiplex with bilateral preauricular sinuses in four generations.

A rare case of steatocystoma multiplex and bilateral preauricular sinuses in four generations is presented along with a review of the literature. The cause, pathogenesis, and treatment of steatocystoma multiplex is discussed. Steatocystoma multiplex (SCM) is a rare clinical disorder characterized by numerous recurrent cutaneous cysts. Since the first case described by Bosellini in 1898, both nonfamilial and autosomal dominant inheritance patterns have been described. There have been at least 13 well-documented nonfamilial cases. However, since Noonjin and Reynolds in 1948 first described the autosomal dominant inheritance pattern, only 4 well-documented familial cases have been reported. To date, there has been one case report of SCM in four generations, and that case was not associated with any other anomaly. The present case describes the occurrence of SCM in association with bilateral preauricular sinuses in multiple generations.

Adult↗
PubMed1994

Anticipation in Swedish families with bipolar affective disorder.

Anticipation describes an inheritance pattern within a pedigree with an increase in disease severity or decrease in age at onset or both in successive generations. The phenomenon of anticipation has recently been shown to be correlated with the expansion of trinucleotide repeat sequences in different disorders. We have studied differences of age at onset and disease severity between two generations in 14 families with unilinear inheritance of bipolar affective disorder (BPAD). There was a significant difference in age at onset (p < 0.008), in episodes per year with (p < 0.006) and without (p < 0.03) lithium treatment, and in total episodes per year (p < 0.002) between generations I and II. Furthermore, there was a highly significant correlation (p < 0.001) in age at onset between generations I and II. No evidence for specific paternal or maternal inheritance was found. We found evidence of anticipation and could rule out ascertainment bias or some other artefact. Anticipation is thus an inheritance pattern in BPAD which suggests that the expansion of trinucleotide repeat sequences is a possible mode of inheritance in BPAD.

Adolescent↗
PubMed1990

Keratoconus and Fuchs' corneal endothelial dystrophy in a patient and her family.

A 44-year-old patient with bilateral keratoconus and bilateral Fuchs' dystrophy underwent penetrating keratoplasty. Examination of the patient's family revealed keratoconus in the patient's son and central guttata and abnormal endothelial cells in the patient's mother and daughter. Histopathologic evaluation of the corneal button demonstrated a thinned central epithelium and folds and keratocytes in Bowman's layer consistent with keratoconus. Central guttata, subepithelial bullae, and a decreased number of endothelial cells, consistent with Fuchs' endothelial dystrophy, were also seen. This case demonstrates that two distinct familial corneal diseases can occur in the same patient. Although one cannot conclude inheritance patterns based on this limited evaluation, the findings in this family support previous observations that keratoconus can be familial, and that Fuchs' corneal dystrophy has a female predilection with an autosomal-dominant inheritance pattern.

Adult↗
PubMed1987

Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis.

We report a pedigree in which a syndrome that resembled familial Mediterranean fever occurred in four family members over three successive generations. All four patients had systemic amyloidosis. Typically, patients with familial Mediterranean fever show an autosomal recessive inheritance pattern. The disorder commonly afflicts Sephardic Jews, Arabs, and persons of Turkish descent. Colchicine therapy dramatically reduces the attack rate of serositis. The family described herein is unique because of their European ethnicity and the autosomal dominant inheritance pattern. Unlike typical familial Mediterranean fever, colchicine had no influence on the attacks and did not prevent amyloidosis in the three patients who received this treatment.

Adult↗
PubMedDate not supplied

Fleck dystrophy of the cornea; a report of cases from three generations of a family.

Fleck dystrophy of the cornea is characterized by numerous, tiny, small opacities scattered throughout the entire corneal stroma. The mode of inheritance is autosomal dominant, and this dystrophy is considered to be bilaterally symmetric. This report describes five members from three-generations of the same family with corneal fleck dystrophy. Their clinical features and genetic inheritance pattern are discussed. Visual acuity in all patients was normal and the density of opacities were similar except for two patients with less density. Except for one who presented with mild photophobia all patients were asymptomatic. The inheritance pattern appeared as autosomal dominant with variable expression.

Adolescent↗
PubMed1982

Mode of inheritance of hypertrophic cardiomyopathy in Iceland. Echocardiographic study.

We used an abnormally thick interventricular septum (greater than or equal to 1.3 cm) as an echocardiographic marker to find the inheritance pattern of hypertrophic cardiomyopathy among relatives of eight patients who had that disease at necropsy. Forty normal subjects served as a control group. Fifty-eight family members were examined and 18 (41%) of the 44 first degree relatives had hypertrophic cardiomyopathy. The overall inheritance pattern was consistent with an autosomal dominant genetic disorder and in one family a recessive trait could be excluded. The diagnosis of hypertrophic cardiomyopathy can be difficult clinically as only 13% of our patients had serious symptoms and only 30% had abnormal auscultatory findings. The electrocardiogram is a useful screening test among relatives as it was abnormal in 20 (87%) of those who had an abnormally thick septum. Symmetric septal hypertrophy was found in 30% of patients with cardiomyopathy in this study and only 17% had clinical evidence of obstruction.

Adolescent↗
PubMed1990

Prognostic significance of nondiploid DNA determined by flow cytometry in sporadic and familial medullary thyroid carcinoma.

To clarify the role of DNA measurements in predicting outcome after surgical treatment of medullary thyroid carcinoma (MTC), we performed flow cytometric analysis in nuclear suspensions of 119 MTC tumors. Of the 119 patients, 63 (53%) patients had sporadic tumors and 56 (47%) patients had familial tumors; survivors were followed for a mean of 13 years. DNA content was normal in 92 (77%) patients and abnormal (nondiploid) in 27 (23%) patients. Ten-year cause-specific mortality rates were 12%, 42%, and 49% with diploid, tetraploid/polyploid, or aneuploid tumors (p = 0.0009) and were greater with nondiploid tumors both in the sporadic (p = 0.012) and multiple endocrine neoplasia (familial) cases (p = 0.114). None of 27 patients with TNM stage I disease died of MTC. In patients with TNM stages II, III, and IV disease, DNA nondiploid tumors were associated with increased deaths from MTC. In a Cox proportional hazards model involving all 119 patients and adjusted for disease stage and inheritance pattern, nondiploid DNA was independently associated with increased deaths from MTC (p = 0.008). In an identical Cox model restricted to the 92 DNA diploid tumors, an S-phase fraction of 15.0% or more remained a significant variable (p = 0.034) after adjustment for stage and inheritance pattern. We therefore conclude that DNA measurements do have a role to play in predicting outcome after surgical treatment of MTC.

Adolescent↗
PubMed1992

An RFLP map of the Plasmodium falciparum genome, recombination rates and favored linkage groups in a genetic cross.

We report a genetic linkage map of the Plasmodium falciparum genome, using the inheritance patterns of nearly 90 RFLP markers in a genetic cross. Markers were assigned to polymorphic loci on all 14 nuclear chromosomes. Genetic recombination between parental markers was detected in each of the progeny, indicating that progeny from cross-fertilization events were favored over progeny from self-fertilization of either parent alone. Inheritance patterns among the markers suggested that certain parental linkage groups on chromosomes 2, 3, 12 and 13 were favored in the cross. Recombination frequencies on five chromosomes indicated an approximate map unit size of 15-30 kb per centiMorgan for P. falciparum.

Animals↗
PubMed1993

Unidirectional dominance of cytoplasmic inheritance in two genetic crosses of Plasmodium falciparum.

Malarial parasites have two highly conserved cytoplasmic DNA molecules: a 6-kb tandemly arrayed DNA that has characteristics of a mitochondrial genome, and a 35-kb circular DNA that encodes functions commonly found in chloroplasts. We examined the inheritance pattern of these elements in two genetic crosses of Plasmodium falciparum clones. Parent-specific oligonucleotide probes and single-strand conformation polymorphism analysis identified single nucleotide changes that distinguished the parental 6- and 35-kb DNA molecules in the progeny. In all 16 independent recombinant progeny of a cross between a Central American clone, HB3, and a Southeast Asian clone, Dd2, the 6- and 35-kb DNAs were inherited from the Dd2 parent. In all nine independent recombinant progeny of a cross between clone HB3 and a likely African clone, 3D7, the 6-kb DNA was inherited from the 3D7 parent. Inheritance of cytoplasmic genomes of the Dd2 and 3D7 parents was, therefore, dominant over that of the HB3 parent. Cytoplasmic DNA molecules were found almost exclusively in the female gametes of malarial parasites; hence, clone HB3 did not appear to have served as a maternal parent for the progeny of two crosses. Defective differentiation into male gametes by clone Dd2 is likely to be a reason for the cytoplasmic inheritance pattern seen in the HB3 x Dd2 cross. However, incompetence of male or female gametes is unlikely to explain the uniparental dominance in recombinant progeny of the HB3 x 3D7 cross, since both parents readily self-fertilized and completed the malaria life cycle on their own. Instead, the data suggest unidirectional parental incompatibility in cross-fertilization of these malarial parasites, where a usually cosexual parental clone can participate only as a male or as a female. Such an incompatibility may be speculated as indicating an early phase of reproductive isolation of P. falciparum clones from different geographical regions.

Animals↗
PubMed1988

A family study of multiple mutations of alpha and delta glycophorins (glycophorins A and B).

Glycophorins alpha and delta are the carriers of the antigens of the MNSs blood system; this report documents the presence of three glycophorin mutations in two individuals of a 16 member family. Erythrocytes were examined by serology, sodium dodecyl sulfate electrophoresis, and immunoblotting. The inheritance pattern and immunoblot profile revealed: (1) A variant Dantu glycophorin showed properties consistent with a delta-alpha glycophorin hybrid structure, previously noted in other individuals. The gene responsible for the Dantu glycophorin in this family is linked to a gene coding for an M-specific alpha glycophorin. (2) Another variant glycophorin, Mi-III glycophorin, was first revealed by immunoblotting and subsequently confirmed by erythrocyte antigen typing. This autosomal dominant trait is associated with N blood group activity and the inheritance pattern indicates that it could be a variant of delta glycophorin. (3) In the individuals with both Dantu and Mi-III glycophorins a delta glycophorin deficiency was observed suggesting that a deletion or alteration of delta gene may exist cis to the Dantu gene. Our findings that document clustering of multiple mutations in MNSs gene loci in the propositus family are very unusual as such variants are relatively rare.

Female↗
PubMedDate not supplied

Linkage analysis of schizophrenia: challenges and promise.

Schizophrenia is a serious mental illness affecting nearly 1 per cent of the general population. Family, twin, and adoption studies suggest that genetics plays a major role in the etiology of schizophrenia. The inheritance pattern appears complex, similar to that of other common conditions like heart disease. To uncover a causal genetic factor, researchers have recently begun to apply a linkage analysis strategy to schizophrenia. Early results suggest that there are many challenges facing scientists who undertake schizophrenia genetics research. While one study has shown significant linkage of schizophrenia to a region on chromosome 5, several other studies have not found linkage to this area. The likelihood that there are several major genes predisposing to the illness and uncertainties about inheritance patterns and diagnostic boundaries are potential difficulties to overcome. Many more families need to be studied, and creative complementary research strategies pursued, to achieve the potential success offered by a genetic linkage approach.

Adolescent↗
PubMed1994

Familial paragangliomas of the head and neck.

OBJECTIVE: It has been known for some time that paragangliomas of the head and neck may be familial. Recent evidence suggests genomic imprinting is an important factor in the clinical development of these tumors. In genomic imprinting the imprintable gene is transmitted in a mendelian manner, but expression of the gene is determined by the sex of the transmitting parent. In the case of paragangliomas, the gene does not result in the development of tumors when maternally inherited. The purpose of this study was to determine if this hypothesis correctly predicted the inheritance pattern of familial paraganglioma in a large series of patients. SETTING: A retrospective review of case records of the Mayo Clinic, Rochester, Minn, a tertiary referral center, was performed for the years 1950 to 1992 to identify patients with familial paragangliomas of the head and neck. PATIENTS: A total of 38 patients with familial paragangliomas of the head and neck were identified in nine kindreds. RESULTS: Carotid body tumors were the most common paragangliomas of the head and neck (34 cases). Glomus jugulare or glomus vagale occurred in eight cases. In 16 (42%) of the patients there were multiple tumors. Surgical complications, primarily cranial nerve palsies, were more frequent for tumors larger than 5 cm in diameter. CONCLUSIONS: An autosomal dominant inheritance pattern could be shown for paragangliomas of the head and neck that was consistent with genomic imprinting. It is recommended that all individuals in kindreds with paragangliomas be screened after the age of 16 years to detect early asymptomatic tumors.

Adolescent↗
PubMed1993

Pseudo low penetrance in retinoblastoma. Fortuitous familial aggregation of sporadic cases caused by independently derived mutations in two large pedigrees.

OBJECTIVE: The disparate occurrence of few cases of retinoblastoma in the same extended pedigree confronts us with the unsolved problem of a low-penetrant autosomal-dominant trait vs fortuitous familial aggregation of sporadic cases. Determination as to whether the disease arises from a common inherited mutation or sporadic mutations has important implications for genetic counseling. This is illustrated in this report of two presumed low-penetrant retinoblastoma pedigrees characterized by two distantly affected relatives connected through apparently healthy carriers. DESIGN: We mathematically modeled the inheritance patterns and calculated the a priori relative probabilities of heredity with low penetrance vs chance occurrence of independent mutations for each pedigree. The derived odds clearly show that the disease, which occurred twice in each family, most likely resulted from unrelated mutations. To prove this, extensive DNA testing was conducted, including determination of intragenic RB1 DNA sequence polymorphisms and screening for mutation using the polymerase chain reaction coupled with single-strand conformation polymorphism analysis. PATIENTS: All living key members from both pedigrees were included. RESULTS: Consistent with our initial expectation, there was no common intragenic haplotype or common germ-line mutation that segregated with the disease phenotype in either of these two families. CONCLUSIONS: We therefore conclude that collateral incidence of retinoblastoma in these two pedigrees occurred by chance and not according to autosomal-dominant inheritance with low penetrance. Furthermore, our data provide the first evidence, to our knowledge, that related individuals may have independent mutations involving an identical gene locus, giving rise to an artefactual inheritance pattern.

Child, Preschool↗
PubMed2026

Genetic Analysis of Genomic and Methylomic Variation and Identification of Multi-Trait Mutants in Rice Carried on Chang'e-5.

Global food security is facing challenges from population growth to diminishing arable land. Space mutation breeding holds promise for overcoming the variation limitations in conventional breeding; however, the mutagenic effects of the deep-space environment on rice and the transgenerational inheritance patterns of induced variations remain unclear. In this study, rice seeds carried by the Chang'e-5 spacecraft were used as materials. Whole-genome sequencing and whole-genome bisulfite sequencing were performed on the first (SP1) and second generations (SP2) of space-mutagenized plants after their return to Earth. The results showed that the number of genomic variants in the SP2 generation increased significantly compared with SP1, and SNPs, homozygous sites, and variants in coding regions were more heritable. The genome-wide methylation level was elevated in the SP2 generation, and among differentially methylated cytosines, those in the CG context exhibited the highest heritability. Furthermore, large-scale screening for nitrogen efficiency, tolerance to PEG-induced stress, and germination-stage cold resistant mutants was conducted in the SP2 generation, and phenotypic validation was performed in the third generation (SP3). By integrating multi-omics analyses of representative mutants to mine candidate genes, a number of heritable elite mutants were obtained, and seven candidate genes for key traits were identified. This study systematically elucidates the transgenerational inheritance patterns of deep-space-induced variation in rice. The multi-trait mutants obtained provide valuable germplasm resources for gene cloning and breeding applications in rice.

DNA methylation↗
PubMed1995

Defective antigen-receptor-mediated regulation of immunoglobulin production in B cells from autoimmune strains of mice.

B cells are stimulated by antigens or by polyclonal activators such as bacterial lipopolysaccharide (LPS) to produce antibody. In nonautoimmune strains of mice, LPS-stimulated antibody responses are inhibited by crosslinking the B cell antigen-receptor (BCR), while antigen-driven responses are shut down by co-crosslinking the BCR and the receptor for the Fc portion of IgG (Fc gamma R). BCR signals are poor at shutting off LPS-induced antibody production, including anti-ssDNA antibody production, in B cells from NZB, NZB/WF1, and BXSB lupus-prone mice but not MRL/lpr or NZW mice. In the current studies, the defect in NZB B cells was shown to be independent of T cells and macrophages. The inheritance pattern of resistance to BCR ligation of LPS-induced Ig production in BXSB mice could not be assigned to either founding strain. In New Zealand mixed (NZM) recombinant inbred mice, slightly but significantly more resistance was found in a line (NZM2410) that demonstrates a greater degree of clinical autoimmunity than another line (NZM64) with fewer autoimmune problems. The autoimmune defect is specific to BCR signals because inhibition of LPS activation by ligation of MHC class II occurs normally in NZB B cells. Bypassing the BCR by direct stimulation of second messengers with phorbol esters or ionomycin did not overcome the defect, suggesting that defects in downstream signaling events, rather than in the BCR mechanism itself, are responsible for the reduced ability to inhibit the LPS response in NZB B cells. The inability of the BCR signaling pathway to control LPS-induced Ig production in NZB mice was apparent at the level of H mu-chain mRNA for secreted IgM. These results suggest that autoimmunity-associated B cell defects in BCR signaling and subsequent regulation of LPS-driven antibody responses have a number of inheritance patterns and involve downstream events in signaling pathways in B cells. The defect can result in aberrant regulation of H mu-chain mRNA levels for secreted IgM production, and may be a predisposing factor in murine systemic autoimmune disease.

Animals↗
PubMed1993

Stress-induced polymorphous ventricular tachyarrhythmias in two brothers: unusual pattern of inheritance in the long QT syndrome.

Two brothers, 10 and 9 years old, are reported who were treated for years with antiepileptic drugs until the cardiac origin of their syncopal attacks was discovered. Our findings are consistent with the diagnosis of long QT syndrome, although no other family members are affected and only intermittent and mostly borderline QT prolongation could be found. Diagnostic difficulties and genetic implications are discussed.

Child↗