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PubMed2002

Inheritance and organisation of the mitochondrial genome differ between two Saccharomyces yeasts.

Petite-positive Saccharomyces yeasts can be roughly divided into the sensu stricto, including Saccharomyces cerevisiae, and sensu lato group, including Saccharomyces castellii; the latter was recently studied for transmission and the organisation of its mitochondrial genome. S. castellii mitochondrial molecules (mtDNA) carrying point mutations, which confer antibiotic resistance, behaved in genetic crosses as the corresponding point mutants of S. cerevisiae. While S. castellii generated spontaneous petite mutants in a similar way as S. cerevisiae, the petites exhibited a different inheritance pattern. In crosses with the wild type strains a majority of S. castellii petites was neutral, and the suppressivity in suppressive petites was never over 50%. The two yeasts also differ in organisation of their mtDNA molecules. The 25,753 bp sequence of S. castellii mtDNA was determined and the coding potential of both yeasts is similar. However, the S. castellii intergenic sequences are much shorter and do not contain sequences homologous to the S. cerevisiae biologically active intergenic sequences, as ori/rep/tra, which are responsible for the hyper-suppressive petite phenotype found in S. cerevisiae. The structure of one suppressive S. castellii mutant, CA38, was also determined. Apparently, a short direct intergenic repeat was involved in the generation of this petite mtDNA molecule.

Base Sequence↗
PubMed1996

Immune deficiency in familial duodenal atresia.

The familial occurrence of duodenal atresia is uncommon. This study evaluated the inheritance patterns, the nature and associations, and the presence of immunologic deficits in duodenal atresia recurring in at least three siblings each in two nonrelated families. In the first family, an association with Fanconi's anemia was observed in three of seven pregnancies (2 boys, 1 girl) suggesting an autosomal recessive mode of transmission. Patients died as a result of overwhelming (fungal) septicemia in association with pancytopenia. In a second family, identical multiple atresias occurred in two female siblings born 18 months apart and a third child with a duodenal stenosis. Overwhelming sepsis and a T-cell dysfunction was seen in the postoperative period, which had partially corrected by follow-up at 5 months. A history of family occurrence of duodenal atresia should alert the physician to the possibility of associated pathology including immune deficiency states.

Abnormalities, Multiple↗
PubMed1993

Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome.

We report 27 children, aged 14 months to 9 years, who had megalencephaly, hypotonia, proximal muscle weakness, speech and motor delay, and increased intracellular lipid (myoliposis) in needle muscle biopsy specimens. The patients had many features of the Ruvalcaba-Myhre-Smith syndrome, and in 17 families we confirmed the autosomal dominant inheritance pattern previously suggested. Muscle carnitine content was low in all 11 patients and all 4 affected relatives tested. All 27 probands were treated with oral L-carnitine; a clinical response was noted in 17. We speculate that myoliposis may be found in other disorders with megalencephaly and muscle symptoms. In such cases, muscle carnitine deficiency should be considered. The reason for the reduced muscle carnitine content is not known.

Abnormalities, Multiple↗
PubMed1990

Partial biotinidase deficiency: clinical and biochemical features.

Neonatal screening for profound biotinidase deficiency (less than 10% of the mean normal activity level) has identified a group of children with partial biotinidase deficiency (10% to 30% of mean normal activity). Because partial biotinidase deficiency may result in clinical consequences that may be prevented by treatment with biotin, we evaluated such individuals and their family members (1) to determine whether partial biotinidase deficiency is associated with symptoms and (2) to determine the inheritance pattern. We quantified serum biotinidase activity levels and obtained medical histories of probands, their parents and siblings, and additional family members. All children with partial deficiency were healthy at the time of diagnosis. One child, who was not initially treated with biotin, later developed hypotonia, hair loss, and skin rash, which resolved with biotin therapy. Four adults and three children with partial biotinidase deficiency were identified among family members of infants identified by neonatal screening. All these individuals were healthy, although one sibling had elevated urinary lactate excretion. A fifth adult with partial deficiency, found among clinically normal adult volunteers, later showed minor symptoms that resolved after biotin therapy. Like children with profound biotinidase deficiency, children with partial biotinidase deficiency are symptoms free at birth. However, the subsequent occurrence of symptoms of profound biotinidase deficiency in some persons with partial deficiency suggests that biotin therapy for this condition may be warranted.

Adult↗
PubMed1980

Osteopetrosis: further heterogeneity.

A form of osteopetrosis is described in two sibs which differs from the well-established autosomal dominant and recessive forms. The clinical course is mild with no evidence of clinically important encroachment upon the bone marrow or cranial nerve foramina; the skeletal radiographs show a mild generalized increase in bone density and metaphyseal modeling defects affecting primarily the distal femurs. The inheritance pattern is compatible with either an autosomal or X-linked recessive mode. The histologic features are distinct as well, and suggest that the pathogenesis of the condition differs from that of the usual forms of osteopetrosis.

Child↗
PubMed1997

Family pedigree analysis of children with severe breath-holding spells.

We examined family pedigrees of children with severe breath-holding spells (SBHS). There were 57 probands (27 males, 30 females; 44 cyanotic, 13 pallid) whose families comprised 1683 individuals. We found that 31 (27%) of 114 proband parents and 9 (21%) of 43 proband siblings had current or prior SBHS. Father-to-son transmission was observed in 7 instances. There were 7 families with 2 or more affected siblings and 5 families with 3 or more affected members. From 85 nuclear families, 130 individuals had current or prior SBHS (59 males, 71 females; male/female ratio, 1:12). These data suggest that the most likely underlying genetic inheritance pattern in SBHS is an autosomal dominant trait with reduced penetrance.

Apnea↗
PubMed2002

Familial hemifacial spasm: report of cases and review of literature.

We describe clinical characteristics of 10 patients (five families) with familial hemifacial spasm, with reviews of 13 patients hitherto reported in the literature. There is no clear difference in clinical manifestations between sporadic and familial hemifacial spasms. There is no definite inheritance pattern, but may be autosomal dominant with low penetrance. The ages of onset of familial hemifacial spasm are variable, but occasionally can occur at early years of life. There is a left-side predominance with respect to the affected side of cases with familial hemifacial spasm. Similar to sporadic hemifacial spasm, vascular decompression was effective, suggesting that vascular compression is involved in generating hemifacial spasm even in the familial cases. Familial hemifacial spasm may not be a rare disorder, but may possibly be overlooked. Clarifying the role of genetic susceptibility in pathophysiological mechanisms underlying hemifacial spasm is an important approach toward better understanding of the pathogenesis of cranial rhizopathies.

Adult↗
PubMed1992

The transmission of vesicoureteral reflux from parent to child.

Vesicoureteral reflux is now recognized to be hereditary and familial. The incidence of reflux in siblings has proved to be significant but less is known about the incidence of reflux in the offspring of known reflux patients. In an ongoing prospective series of reflux screening we identified 23 patients of childbearing age with a known history of reflux and screened their 36 offspring with an awake voiding cystourethrogram. Of these 36 offspring 24 (66%) exhibited vesicoureteral reflux. The literature was also reviewed to determine the incidence of parent/child reflux from reported cases. This review revealed a 65% rate of reflux in the offspring of known patients. Our preliminary results coupled with those in the literature signify a need to screen the offspring of known reflux patients and suggest a rethinking of the genetic transmission for this trait. While vesicoureteral reflux could still be a multifactorial genetic trait with a major gene, consideration must also be given to an autosomal dominant inheritance pattern.

Child↗
PubMed2003

The myopathies.

Extraordinary progress has been made in the recognition, understanding, and treatment of myopathy in the past several decades, aided by the application of molecular genetics, electrophysiology, muscle biopsy, and innovative therapies. The symptoms of muscle disease may vary among individual patients with acquired muscle disorders, as well as family members with inherited disorders. A careful history and examination is necessary to establish the symptoms, temporal progression, and distinctive areas of involvement, associated conditions, and suspected inheritance pattern in those patients in whom genetic cause is suspected. Selective laboratory testing is performed in symptomatic patients, which may include creatinine kinase level, electrodiagnostic studies, and, as warranted, examination of blood and muscle tissue for specific histopathological and genetic defects.

Adult↗
PubMed2002

A hMLH1 genomic mutation and associated novel mRNA defects in a hereditary non-polyposis colorectal cancer family.

Hereditary non-polyposis colorectal cancer (HNPCC), or Lynch syndrome I, is responsible for as high as 10% of all colorectal cancers (CRCs) newly diagnosed in any given year. This disorder has an autosomal dominant inheritance pattern and is almost fully penetrant (>85%). It occurs when there is a mutation in any one of six mismatch repair genes: hMLH1, hMSH2, hPMS1, hPMS2, hMSH3 and hMSH6. Mutations in these genes allow mistakes in tumor suppressor genes and oncogenes to accumulate which eventually leads to cancer. The founder of an HNPCC family in the Creighton University Hereditary Cancer Institute database was known to produce truncated hMLH1 protein, a product of one of the aforementioned mismatch repair genes. Lymphoblasts were isolated from ten members of this HNPCC family (six affected and four unaffected) and two persons from outside this family (both unaffected controls). RNA and DNA were purified from these lymphoblasts which had been transformed by the Epstein-Barr virus (EBV). The hypothesis was that a mutation in the hMLH1 gene perpetuated defects in its mRNA and functional protein. hMLH1 RNA transcripts were detected in reverse transcriptase polymerase chain reactions (RT-PCR) whereby total poly A(+) RNA was converted to a complementary DNA (cDNA), amplified using hMLH1 specific primers, purified and cycle sequenced. Likewise, DNA was employed as template for PCR amplification of hMLH1 exons; PCR products were then directly cycle sequenced. Affected family members were found to produce hMLH1 mRNA lacking exons 6 and 7 (and wild-type mRNA). A splicing mutation at 546--2 (two bases 5' to exon 7) was located in the genomic DNA samples from the six family members with the HNPCC phenotype. This mutation caused deletion of exon 7 from the mRNA. None of the four unaffected family members or the two unaffected persons outside of this family had the above defects in their hMLH1 mRNA and DNA.

Adaptor Proteins, Signal Transducing↗
PubMed1998

Prenatal sonographic findings associated with sporadic subcortical nodular heterotopia.

BACKGROUND: Subcortical nodular heterotopia is a neuronal migration disorder of uncertain etiology. This disorder occurs primarily in females and has a familial X-linked dominant inheritance pattern. The predominant symptom associated with heterotopia is seizures. CASE: At 23 weeks' gestation, prenatal sonography disclosed an isoechoic supratentorial intracranial mass causing right-sided shift of midline structures and compression of the contralateral cerebral ventricle. Serial ultrasound examinations of this mass were significant for the absence of invasion into surrounding structures, gross enlargement of cranial biometric parameters, and hydrocephalus and hydrops fetalis. Neonatal magnetic resonance imaging findings were consistent with gray matter heterotopia and were confirmed as such by brain biopsy. CONCLUSION: Subcortical nodular heterotopia manifested unique prenatal sonographic findings. This case suggests the possibility of prenatal diagnosis in families at risk for this lesion.

Adult↗
PubMed1984

Clinicopathologic and dysmorphic findings in recombinant chromosome 8 syndrome.

Clinical records, autopsy reports, and microscopic slides from 11 infants with the recombinant 8 syndrome, an inherited abnormality of chromosome 8 affecting Hispanics from New Mexico and Colorado, were evaluated. A prevalence of cardiac and genitourinary anomalies was found, while few central nervous system abnormalities were observed. Dysmorphic features associated with recombinant 8 syndrome are presented, with descriptions of the inheritance pattern and recurrence risk. Because recombinant 8 syndrome is a chromosomal disorder that will appear more and more frequently as kindreds enlarge, pathologists must be alert to its diagnostic characteristics and genetic implications.

Abnormalities, Multiple↗
PubMed1995

Molecular genetic approaches to the study of human craniofacial dysmorphologies.

Craniofacial dysmorphologies are common, ranging from simple facial disfigurement to complex malformations involving the whole head. With the advent of gene mapping and cloning techniques, the genetic element of both simple and complex human craniofacial dysmorphologies can be investigated. For many of the dysmorphic syndromes, it is possible to find families that display a particular phenotype in either an autosomal dominant, recessive, or X-linked manner. This article focuses on a subgroup of craniofacial dysmorphologies, covering these three main inheritance patterns, that are being studied using molecular biology techniques: DiGeorge syndrome, Treacher Collins syndrome, Greig cephalopolysyndactyly syndrome, acrocallosal syndrome, amelogenesis imperfecta, and X-linked cleft palate with ankyloglossia. Once the mutated or deleted gene or genes for each syndrome have been cloned, patterns of normal and abnormal craniofacial development should be elucidated. This should enhance both diagnosis and treatment of these common and disfiguring disorders.

Animals↗
PubMed1988

Genomic imprinting and carcinogenesis.

Genomic imprinting might play an important part in the development of several tumours. It is suggested that in Wilms' tumorigenesis, imprinting normally renders inactive a transforming gene on the maternally derived chromosome 11, leaving intact the paternally inherited chromosome 11 and the Wilms' transforming gene that it carries. A similar mechanism might account for the inheritance patterns of other tumours.

Alleles↗
PubMed1994

Ulcerative colitis and xenobiotic metabolism.

Any hypothesis on the cause of ulcerative colitis must account for genetic influences, geographic and ethnic variations, effects of smoking and oral contraception, anatomical distribution, the relapsing and remitting nature of the disease, and association with primary sclerosing cholangitis. This hypothesis proposes that ulcerative colitis is caused by a reactive xenobiotic metabolite which is conjugated before excretion into bile. The amount of metabolite produced is determined by exposure to its parent compound, by the inherited pattern of metabolism, and by inhibition and induction of enzymes catalysing alternative pathways. Deconjugation by bacteria within the colonic lumen releases the reactive metabolite, damaging the colonic epithelial barrier and exposing the mucosal immune system to luminal contents. Biliary epithelial damage by the metabolite leads to an immune response in those individuals carrying appropriate HLA molecules, thereby initiating an inflammatory process within the biliary tree.

Bacterial Physiological Phenomena↗
PubMed1997

Structure and organization of the immunoglobulin M heavy chain genes in Atlantic salmon, Salmo salar.

To determine the structure and organization of the germline immunoglobulin M heavy chain (IgH) genes in Atlantic salmon, Salmo salar, relevant clones from a genomic library (of one individual fish) have been characterized. Two closely related IgH constant region genes, CHA and CHB, have been sequenced completely. In addition, an allotypic variant of CHA was identified and partially sequenced. Five joining (JH) elements were found in a distance of 0.5-1.6 kb upstream of the first constant exon (CH1), in both CHA and CHB, substantiating the hypothesis that the entire gene complex is duplicated; possibly a remnant of a tetraploid event in the salmonid ancestor. An octamer motif (ATGTATTT, and its reverse complementary sequence) was found to be dispersed in the JH-CH1 region, but not elsewhere, signifying a role in these loci. Four closely related variable (VH) genes which were subcloned from three distinct lambda clones showed the classical structure of a two exon unit split by a 100 bp intron. The split-intron and a few hundred base pairs of the flanking sequences of the genes were highly similar. Three of the four genes were interrupted by stop codons and/or frame shifts, indicating a high proportion of VH-pseudogenes in this species. Based on the present results, and comparison with sequences of rainbow trout, Oncorhynchus mykiss, it is likely that the IgH loci have remained tetrasomicly inherited throughout the radiation of the genus Salmo and Oncorhynchus, and that the duplicated loci have gone into a disomic inheritance pattern in the comparatively recent past.

Animals↗
PubMed2001

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

OBJECTIVE: To investigate the phenotype and age-related penetrance of primary open-angle glaucoma (POAG) in Australian families with the most common Myocilin mutation (Gln368STOP). DESIGN: Cross-sectional genetic study. PARTICIPANTS: Eight pedigrees carrying the Gln368STOP mutation were ascertained from 1730 consecutive cases of POAG in the Glaucoma Inheritance Study in Tasmania. METHODS: Index cases and available family members were examined for signs of glaucoma, and the presence of the GLC1A Gln368STOP mutation was ascertained by single-strand conformation polymorphism analysis and subsequent direct sequencing. RESULTS: From the eight pedigrees, 29 Gln368STOP mutation-carrying individuals with either ocular hypertension (OHT) or POAG were found, with a mean age at diagnosis of 52.4 +/- 12.9 years and a mean peak intraocular pressure (IOP) of 28.4 +/- 4.7 mmHg. A further 11 mutation carriers older than 40 years have been studied, who as yet show no signs of OHT or POAG. Within the 8 pedigrees, a further 31 individuals with OHT or POAG were identified who did not carry the Gln368STOP mutation. For these individuals the mean age at diagnosis was higher (62.3 +/- 13.7 years, P < 0.01), and the mean peak IOP was lower (25.4 +/- 6.4 mmHg, P = 0.01). For Gln368STOP carriers, age-related penetrance for OHT or POAG was 72% at age 40 years and 82% at age 65 years. A positive family history of POAG was present in all index cases. Five of the eight pedigrees had a positive family history on both maternal and paternal sides. Seven of the eight pedigrees had one or more individuals with POAG who did not carry the mutation. Eight of the 29 Gln368STOP carriers with OHT or POAG had undergone trabeculectomy. CONCLUSIONS: The GLC1A Gln368STOP mutation is associated with POAG, which in the pedigrees studied is of a younger age of onset and higher peak IOP than non-mutation glaucoma cases. In addition, Gln368STOP mutation glaucoma cases were more likely to have undergone glaucoma drainage surgery. We have not observed simple autosomal dominant inheritance patterns for POAG in these pedigrees. Other factors, as yet uncharacterized, are involved in expression of the POAG phenotype in Gln368STOP pedigrees.

Adult↗