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PubMed1998

X-linked female band heterotopia-male lissencephaly syndrome.

We report a family with band heterotopia in a mother and daughter and lissencephaly in a son (X-linked inheritance pattern). Postmortem examination of the boy revealed classical lissencephaly and, among other findings, simplified and discontinuous inferior olives without inferior olivary heterotopia. The absence of inferior olivary heterotopia may distinguish X-linked lissencephaly from other conditions with classic lissencephaly such as Miller-Dieker syndrome.

Adult↗
PubMed2002

Japanese family with parkinsonism, depression, weight loss, and central hypoventilation.

BACKGROUND: The authors describe the clinical and pathologic characteristics of the Fukuoka 1 family, the first Japanese family recognized to have hereditary parkinsonism associated with depression, weight loss, and central alveolar hypoventilation. METHODS: The pedigree contains 14 family members spanning four generations, with five affected individuals. All available medical records were collected for affected members, including autopsy results. RESULTS: The inheritance pattern was autosomal dominant. The average age at onset of symptoms was 41 years. All patients had parkinsonism characterized by rigidity, bradykinesia, and resting and postural tremor. Bradykinesia and depression developed in the proband at age 43 years. He responded to levodopa in the initial stage only. A year later, he had weight loss and central hypoventilation leading to respiratory failure. Symptoms developed in his cousin at age 38 years. The proband's father developed a resting tremor and depression at age 43 years. The tremor was initially responsive to levodopa therapy, but the disease was relentlessly progressive, leading to severe bradykinesia, rigidity, weight loss, and respiratory distress. He died of respiratory failure at age 49 years. Autopsy showed marked neuronal loss and gliosis in the substantia nigra and locus ceruleus. Lewy bodies, neurofibrillary tangles, senile plaques, and other abnormal structures were not seen in the cortical and subcortical regions. CONCLUSIONS: The Fukuoka 1 family shares many clinical and pathologic features with five previously reported kindreds from North America and Europe, suggesting that this syndrome has a worldwide distribution and can occur in different ethnic populations.

Adult↗
PubMed1979

Myopathies.

This paper reviews the recent advances in our knowledge of muscle disease. The use of muscle biopsy for diagnosis is discussed. The etiology, pathogenesis, and treatment of polymyositis/dermatomyositis are considered. The author discusses the clinical patterns, inheritance, and pathogenesis of progressive muscular dystrophies, especially Duchenne muscular dystrophy; myotonic disorders; glycogen storage diseases; disorders of lipid metabolism; mitochondrial diseases; and congenital muscle diseases. (Neurosurgery, 5: 747--758, 1979).

Dermatomyositis↗
PubMed2006

A sex-linked allele, autosomal modifiers and temperature-dependence appear to regulate melanism in male mosquitofish (Gambusia holbrooki).

About 1% of male mosquitofish (Gambusia holbrooki) express melanic (mottled-black) body coloration, which differs dramatically from the wild-type, silvery-gray coloration. Here, I report on the genetic inheritance pattern of melanic coloration, which indicates Y-linkage, and at least one autosomal modifier. Phenotypic expression of melanism is also affected by temperature. Expression is constitutive (temperature insensitive) in some populations, inducible (temperature sensitive) in others. Constitutive and inducible expression occur among geographically proximal populations. However, males from any single population demonstrate the same constitutive or inducible expression pattern as one another. The F1 males from inter-population crosses demonstrate temperature-related expression patterns like their sires'. As well, the sex ratio of melanic males' progeny differs among populations. Here, inter-population crosses demonstrate a sex-ratio bias in the same direction as intra-population crosses of the sire population. About 20% of the male progeny of melanic sires express the wild-type phenotype. These silver F1 males sire only silver offspring, suggestive of loss of the melanin gene in F1 males from crossover between sex chromosomes, or control by additional modifiers, or involvement of additional factors. In nature, melanic males persist at very low frequencies. The data collected here on heritability indicate that genetic factors contribute to the rarity of melanic male mosquitofish.

Animals↗
PubMed1995

Functionally significant allelic variation in myosin light chain composition in a tropical cichlid

Single fast muscle fibres in the tropical fish Oreochromis andersonii were found to contain two myosin light chains (LC1s; LC1f1* or LC1f2*). Breeding experiments confirmed that the different LC1s were of allelic origin and their inheritance patterns conformed to Mendelian expectations (1:2:1). The LC1s differed in apparent relative molecular mass by 800­900. No other differences in myosin subunits were found between the LC1 genotypes. The molar ratios of LC3:LC1(total) in the fast muscle of O. andersonii homozygous for LC1f1* or LC1f2* and heterozygous for both alleles were 2.0:1, 2.1:1 and 2.2:1, respectively, as determined by capillary electrophoresis. The maximum contraction velocity (Vmax) of single skinned muscle fibres was determined at 20 °C by the slack-test method. Vmax values (fibre lengths s-1) for fast muscle fibres from O. andersonii which were homozygous for either LC1f2* or LC1f1* were 5.3 and 3.3, respectively, compared with 3.8 when both alleles were present. Crosses between Oreochromis niloticus and O. andersonii produced F1 hybrids which were heterozygous for either LC1n/LC1f1* or LC1n/LC1f2*, where LC1n is the myosin light chain for O. niloticus. The distribution of myosin light chain genotypes in hybrid offspring was not significantly different from the expected Mendelian 1:1 ratio (47 %: 53 %). The Vmax (fibre lengths s-1) of muscle fibres containing LC1f2* from hybrid Oreochromis was 4.3 compared with 3.1 for the LC1f1* genotype. The results are consistent with a functionally significant allelic variation in myosin LC1 in fast muscle fibres from O. andersonii which is also expressed in hybrid genotypes.

Journal Article↗
PubMed1999

[Physiological, genetic and pathological factors regulating the reductive metabolism of drugs with a ketone group].

In this review, we describe the physiological, genetic and pathological factors regulating the reductive metabolism of drugs with a ketone group. Acetohexamide (AH) was chosen as a model drug with a ketone group. Species differences of AH reductase activity were observed in liver cytosol and microsomes of animals tested. AH reductase activity in liver microsomes of rats was much higher in males than females. The activity was not detectable until 4 weeks of age after birth in both sexes, but increased markedly at puberty only in males. AH reductase activity in liver microsomes of male rats was decreased by testectomy, and restored by the treatment with testosterone propionate, indicating that the sex-related difference and postnatal development of the activity are regulated by androgens. There was a strain difference of AH reductase activity in liver microsomes of male rats. Of rat strains tested, only Wistar-Imamichi strain was found to lack male-specific microsomal enzyme activity. The inheritance pattern of AH reductase activity in liver microsomes of rats was determined by mating the genetic deficiency Wistar-Imamichi strain with Fischer-344 strain. Streptozotocin-induced diabetes significantly decreased AH reductase activity in liver microsomes of male rats. Furthermore, the physiological role of AH reductase present in liver microsomes of male rats was examined. We propose the possibility that the male-specific microsomal enzyme physiologically functions as a 20 beta-hydroxysteroid dehydrogenase.

20-Hydroxysteroid Dehydrogenases↗
PubMed2000

Clinical decision making regarding leiomyomata: what we need in the next millenium.

Leiomyomata represent the most common gynecologic tumors and are responsible for over 200,000 hysterectomies per year. They are almost invariably benign and represent clonal expansion of individual myometrial cells. They can cause a variety of symptoms including menometrorrhagia, dysmenorrhea, pelvic pain, reproductive failure, and compression of adjacent pelvic viscera, or be totally asymptomatic. Leiomyomata are more common in African-American women and have a non-Mendelian inheritance pattern with up to a 50% recurrence rate after surgical removal. The therapeutic choices depend on the goals of therapy, with hysterectomy most often used for definitive treatment, and myomectomy when preservation of childbearing is desired. Intracavitary and submucous leiomyomata can be removed by hysteroscopic resection. Laparoscopic myomectomy is now technically possible but apparently with an increased risk of uterine rupture during pregnancy. Although gonadotropin-releasing hormone-agonist-induced hypogonadism can reduce the volume of leiomyomata, the severe side effects and prompt recurrences make them useful only for short-term goals such as reversing anemia or shrinking an intracavitary tumor prior to hysteroscopic resection. Nonextirpative approaches such as myolysis and uterine artery embolization are being evaluated, and may provide more options if they prove to be safe and efficacious in long-term follow-up. Ultimately, if the genetic basis for fibroid development and/or the molecular mechanism(s) of myometrial proliferation are understood, additional nonsurgical therapeutic interventions may be forthcoming. Current clinical needs are to a) determine an effective prevention strategy in genetically predisposed individuals; b) slow the growth of leiomyomata; c) identify the mechanisms of infertility; d) improve early detection; e) develop better surgical techniques; f) reduce recurrences after myomectomy; g) develop nonextirpative options; and h) evaluate their long-term results.

Decision Support Techniques↗
PubMed2002

Increased serum corticosterone and glucose in offspring of chromium(III)-treated male mice.

Preconceptional carcinogenesis occurs in animals and is suspected for humans--for example, after occupational metals exposure. Several characteristics in animal models, including high frequency and non-Mendelian inheritance patterns, have suggested an epigenetic mechanism, possibly involving hormone changes in offspring. To test this hypothesis, we treated male mice with chromium(III) chloride, a preconceptional carcinogen, 2 weeks before mating, in two separate experiments. Their 10-week-old offspring showed highly significant increases in average serum corticosterone and glucose, compared with control offspring. Average serum levels of insulin-like growth factor 1 (IGF1) showed more modest possible increases. A previous microarray experiment identified hepatic insulin-like growth factor binding protein 1 (IGF BP1) gene expression as consistently changed in correlation with serum corticosterone levels. In the present study, hepatic IGF BP1 mRNA correlated with serum IGF1 in male offspring of chromium-treated fathers, but not in controls; serum glucose correlated positively with hepatic IGF BP1 in chromium-group offspring but negatively in controls. These results support the hypothesis that preconceptional exposure effects may alter hormones, metabolism, and control of tissue gene expression, probably through epigenetic mechanisms. Risk of neoplasia may be influenced by these changes.

Animals↗
PubMed2002

Harlequin ichthyosis in two greater kudu (Tragelaphus strepsiceros).

Two greater kudu calves (Tragelaphus strepsiceros) born 7 years apart were found with fissures and thickened, scaly, cutaneous plates covering over 80% of their bodies. One was dead at presentation, and the other was euthanized shortly after birth. Both animals shared a common sire. On necropsy, chemosis, ectropion, eclabium, and bilateral valgus deformities of the tarsal joints were observed in one calf, presumed to be secondary to the plates restricting normal fetal development. The principal microscopic lesion was severe lamellar orthokeratosis, with focal mild parakeratosis. Ultrastructural epidermal lesions included the absence of normal lamellar granules, large dilated endoplasmic reticulum, and abnormal retention of organelles and vesicles. Gross, histopathologic, and electron microscopic findings in both kudu calves were consistent with those of harlequin ichthyosis, a rare dermatosis of humans believed to have an autosomal recessive inheritance pattern. The underlying genetic and molecular abnormality and heritability of this condition in this greater kudu herd were not determined.

Animals↗
PubMed2004

Sensitivity to oxidative stress in DJ-1-deficient dopamine neurons: an ES- derived cell model of primary Parkinsonism.

The hallmark of Parkinson's disease (PD) is the selective loss of dopamine neurons in the ventral midbrain. Although the cause of neurodegeneration in PD is unknown, a Mendelian inheritance pattern is observed in rare cases, indicating a genetic factor. Furthermore, pathological analyses of PD substantia nigra have correlated cellular oxidative stress and altered proteasomal function with PD. Homozygous mutations in DJ-1 were recently described in two families with autosomal recessive Parkinsonism, one of which is a large deletion that is likely to lead to loss of function. Here we show that embryonic stem cells deficient in DJ-1 display increased sensitivity to oxidative stress and proteasomal inhibition. The accumulation of reactive oxygen species in toxin-treated DJ-1-deficient cells initially appears normal, but these cells are unable to cope with the consequent damage that ultimately leads to apoptotic death. Furthermore, we find that dopamine neurons derived from in vitro-differentiated DJ-1-deficient embryonic stem cells display decreased survival and increased sensitivity to oxidative stress. These data are consistent with a protective role for DJ-1, and demonstrate the utility of genetically modified embryonic stem cell-derived neurons as cellular models of neuronal disorders.

Animals↗
PubMed2006

Invasion and persistence of a selfish gene in the Cnidaria.

BACKGROUND: Homing endonuclease genes (HEGs) are superfluous, but are capable of invading populations that mix alleles by biasing their inheritance patterns through gene conversion. One model suggests that their long-term persistence is achieved through recurrent invasion. This circumvents evolutionary degeneration, but requires reasonable rates of transfer between species to maintain purifying selection. Although HEGs are found in a variety of microbes, we found the previous discovery of this type of selfish genetic element in the mitochondria of a sea anemone surprising. METHODS/PRINCIPAL FINDINGS: We surveyed 29 species of Cnidaria for the presence of the COXI HEG. Statistical analyses provided evidence for HEG invasion. We also found that 96 individuals of Metridium senile, from five different locations in the UK, had identical HEG sequences. This lack of sequence divergence illustrates the stable nature of Anthozoan mitochondria. Our data suggests this HEG conforms to the recurrent invasion model of evolution. CONCLUSIONS: Ordinarily such low rates of HEG transfer would likely be insufficient to enable major invasion. However, the slow rate of Anthozoan mitochondrial change lengthens greatly the time to HEG degeneration: this significantly extends the periodicity of the HEG life-cycle. We suggest that a combination of very low substitution rates and rare transfers facilitated metazoan HEG invasion.

Animals↗
PubMed2002

Asthma, allergy, and airway hyperresponsiveness are not linked to the beta(2)-adrenoceptor gene.

STUDY OBJECTIVES: To exclude genetic linkage between the beta(2)-adrenoceptor gene and asthma, allergy, and methacholine airway hyperresponsiveness. DESIGN: The current study used six distinct intragene markers within the beta(2)-adrenoceptor gene, and evaluated genetic linkage between the beta(2)-adrenoceptor and asthma, allergy, or methacholine airway hyperresponsiveness in eight multiplex families. PATIENTS: Forty-nine members of eight multiplex families with a high incidence of asthma. INTERVENTIONS: Phenotypes were characterized by history, physical examination, skin testing, pulmonary function tests, and methacholine inhalational challenge. Genetic loci were identified using restriction fragment length polymorphisms, denaturing gradient gel electrophoresis, and restriction enzyme digest of polymerase chain reaction-amplified fragments of the beta(2)-adrenoceptor gene. MEASUREMENTS AND RESULTS: Nonparametric analysis using computer analysis software found no evidence for linkage between these markers within the beta(2)-adrenoceptor gene and asthma. Parametric exclusion analysis using a dominant inheritance model resulted in large negative lod scores (- 6.74, - 19.44, and - 49.9, respectively) for tight linkage between asthma, allergy, or methacholine airway hyperresponsiveness and these polymorphic markers. CONCLUSIONS: These results indicate that asthma, allergy, and methacholine airway hyperresponsiveness are not linked to a dominant beta(2)-adrenoceptor gene with strong effect in these eight families with an inherited pattern of asthma.

Adolescent↗
PubMed2003

Mutational analysis of Hungarian patients with androgen insensitivity syndrome.

OBJECTIVE: To support the clinical diagnosis of androgen insensitivity syndrome (AIS), we performed mutational analysis of the androgen receptor gene. DESIGN: Clinical, hormonal and molecular genetic data of ten undervirilized genetic male patients living in Hungary were recorded. METHODS: PCR-based single strand conformation polymorphism (SSCP) analysis was used to study the whole coding region of the androgen receptor gene. Direct fluorescent sequencing was applied when aberrant migration was detected by SSCP. RESULTS: Five different mutations were identified in five unrelated genetic male patients with abnormal sexual differentiation. One of these mutations was novel, while the other four mutations have been described previously in the literature. One of the mutations identified earlier in individuals with sporadic AIS showed a familial inheritance pattern in our study group. No abnormality of the androgen receptor gene was identified in three patients clinically suspected to have partial AIS. CONCLUSION: Application of molecular techniques helped to clarify the diagnosis in patients with disorders of male sexual differentiation.

Adolescent↗
PubMed2005

Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome.

Hypertrichosis cubiti (HC) or hairy elbow syndrome (OMIM # 139600) consists of a localised form of long vellus hair on the extensor surfaces of the distal third of the upper arm and the proximal third of the forearm bilaterally, or occasionally on other parts of the body. In the 28 cases reported in the literature so far the elbow hair abnormality was either isolated or associated with short stature or other physical abnormalities. Most of these cases were sporadic, but autosomal dominant as well as autosomal recessive inheritance patterns have been postulated. We report on three unrelated girls (aged 7 to 11 years) of whom one presented with excess hair in the elbows alone and the other two had associated abnormalities including short stature, dysmorphic facial features and mental retardation. The literature on this subject has been reviewed and the authors focus on cases of HC with associated anomalies. A pathogenic explanation by somatic mosaicism is proposed.

Abnormalities, Multiple↗
PubMed2004

The oocyte and its role in regulating ovulation rate: a new paradigm in reproductive biology.

Ovulation rate in mammals is determined by a complex exchange of hormonal signals between the pituitary gland and the ovary and by a localised exchange of hormones within ovarian follicles between the oocyte and its adjacent somatic cells. From examination of inherited patterns of ovulation rate in sheep, point mutations have been identified in two oocyte-expressed genes, BMP15 (GDF9B) and GDF9. Animals heterozygous for any of these mutations have higher ovulation rates (that is, + 0.8-3) than wild-type contemporaries, whereas those homozygous for each of these mutations are sterile with ovarian follicular development disrupted during the preantral growth stages. Both GDF9 and BMP15 proteins are present in follicular fluid, indicating that they are secreted products. In vitro studies show that granulosa and/or cumulus cells are an important target for both growth factors. Multiple immunisations of sheep with BMP15 or GDF9 peptide protein conjugates show that both growth factors are essential for normal follicular growth and the maturation of preovulatory follicles. Short-term (that is, primary and booster) immunisation with a GDF9 or BMP15 peptide-protein conjugate has been shown to enhance ovulation rate and lamb production. In summary, recent studies of genetic mutations in sheep highlight the importance of oocyte-secreted factors in regulating ovulation rate, and these discoveries may help to explain why some mammals have a predisposition to produce two or more offspring rather than one.

Animals↗
PubMed2002

Attitudes of pediatric residents toward ethical issues associated with genetic testing in children.

OBJECTIVE: To assess the attitudes of pediatric residents toward molecular genetic testing and some associated ethical issues that accompany its use in pediatric patients. METHODS: A questionnaire study of pediatric residents (n = 160; response rate: 40%) enrolled in training programs at 3 New York metropolitan area hospitals was designed to determine their attitudes toward genetic testing in children and adolescents. The study instrument presented 2 clinical vignettes that described scenarios where a pediatric patient was at risk for being affected with or a carrier of a genetic disorder. Residents returned the questionnaire anonymously. RESULTS: Most pediatric residents recognized the importance of educating family members (95%) and at-risk individuals (89%) about the inheritance pattern of the disorders they were at risk for. However, a substantial number would order predictive testing for Huntington disease in a child at the request of a parent (39% at age 10 and 52% at age 17), and more than half would order fragile X carrier studies on the cognitively normal sister of an affected male (56%). CONCLUSIONS: An effort must be made to educate all physicians during their residency training about the ethical issues associated with genetic testing. For pediatric residents, such education must include instruction on the complexities associated with offering such testing in this age group.

Adolescent↗
PubMed2006

[Leydig cell hypoplasia].

The Leydig cell hypoplasia is a rare and well defined form of male pseudohermaphroditism with autosomal recessive inheritance pattern. An inadequate fetal testicular Leydig cell differentiation and, consequently a low androgenic production during intra uterine and post natal periods, result in absence or incomplete virilization in patients with 46,XY karyotype. These patients exhibit a wide clinical spectrum, ranging from complete female external genitalia to male external genital with micropenis, low serum testosterone levels associated with high LH levels. Inactivating mutations of the LH/hCG receptor gene have been identified in affected families in the last decade. However, the low frequency of inactivating mutations in this gene, and the lack of segregation of intragenic polymorphisms among affected members from families with typical phenotype of Leydig cell hypoplasia, suggest the genetic heterogeneity of this condition.

Disorders of Sex Development↗
PubMed2003

[Hereditary sensory and autonomic neuropathy type 2: two cases report].

Two cases of hereditary sensory and autonomic neuropathy type 2 are reported. This type of neuropathy is included in a group that consists of five different entities. The systematization of that neuropathies depends on multiple criteria such as age of beginning, genetic aspects, clinical manifestations, eletroneuromyographic and pathologic features. In this report we describe the cases in a family, two brothers, 27 and 35 years old that were observed in our department with pain insensibility and consequent sensitive-trophic disturbs and deformity of members. The diagnoses was defined as hereditary sensory and autonomic neuropathy type 2 and an inherited pattern recessive autossomic transmission was considered. The age of beginning, the hereditary aspects, the clinical manifestations and the eletroneuromyographic features are analysed. The differential diagnoses with other sensory hereditary and acquired neuropathies is emphasized.

Adult↗