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PubMed2004

Towards the molecular understanding of the polar overdominance phenomenon associated with the callipyge phenotype in sheep.

Most medically or agronomically important phenotypes are "complex" inherited traits. They are influenced by genes but not transmitted according to Mendel's laws. Recently, Steve Henikoff wrote: "The nature of quantitative-trait variation is one of the last unexplored frontiers in genetics, awaiting the future and definitive identification of complex trait determinants, wether they be genetic or epigenetic" (Nature Genetics, 2003). The callipyge phenotype is a muscular hypertrophy in sheep that is characterized by a complex inheritance pattern referred to as polar overdominance: only heterozygous individuals having received the CLPG mutation from their sire exhibit the phenotype. We have spent the last ten years attempting to dissect the molecular basis of this unique phenomenon. These studies have lead to a working model including: (i) DLKI, a paternally expressed growth promoter, (ii) a maternally expressed DLK1 trans-acting repressor that is likely to be a non-coding RNA, and (iii) the CLPG mutation inactivating a silencer element controlling both the expression of DLK1 and its trans-acting repressor in skeletal muscle. This research is not only of fundamental interest, but may as well lead to a better understanding and hence control of "complex" diseases exhibiting "parent-of-origin" effects.

Animals↗
PubMed2005

[Genes and their functional mechanisms in the pathogenesis of muscular dystrophy].

Muscular dystrophy (MD), a group of inherited disorders characterized by progressive skeletal muscle wasting and weakness, can be classified into several groups according to Mendelian inheritance patterns and clinical features. Many genes related to MD have been identified and cloned by genetic linkage analysis and positional cloning strategy. Our understanding of the molecular mechanisms giving rise to muscular dystrophy have made a progress by the functional analysis of proteins encoded by candidate genes for MD. This article reviews genes and their functional mechanisms in the pathogenesis of muscular dystrophy.

Calpain↗
PubMed1992

Familial cataracts and concurrent ocular anomalies in chow chows.

A closely inbred line of Chow Chows affected with congenital cataracts was studied. Sixteen dogs were examined including 1 adult male, 2 adult females, and 13 pups. Twelve of the pups were from 6 different litters, out of 6 different bitches, all sired by 1 adult male. The exact relationship of the thirteenth pup was undetermined. Clinical evaluation included slit-lamp biomicroscopy, biomicroscopic photography, and indirect ophthalmoscopy. Clinical appearance of the cataracts was variable, ranging from incipient nuclear or capsular lesions to advanced cortical opacity. The lens nucleus was most consistently affected, with variable involvement of the lens cortex. Concurrent ocular anomalies of some eyes included wandering nystagmus, entropion, microphthalmia, persistent pupillary membrane remnants, and multifocal retinal folds. A correlation was not apparent between the character or severity of the cataracts and the finding of the other anomalies. Histologic examination of 12 lenses revealed posterior displacement of the lens nucleus, retained lens epithelial cell nuclei in the nuclear and cortical lens, anterior capsular irregularity and duplication, anterior lens epithelial duplication, and posterior subcapsular migration of epithelium. The high incidence of cataract in this family of Chow Chows suggested an inherited defect, although the inheritance pattern was undetermined.

Animals↗
PubMed2005

Acrodysostosis: autosomal dominant transmission.

We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet), cone-shaped epiphysis, advanced bone age, and mental retardation. He and his mother also had bilateral first ray hyperplasia of the feet thereby expressing the autosomal dominant inheritance pattern.

Child, Preschool↗
PubMed2005

Genes underlying familial hypodontia: a review and discussion of the role of dental hygienists in future research.

Congenitally missing teeth, or hypodontia, is one of the most common abnormalities of the human dentition and has a critical and often lifelong impact on the oral health of affected individuals. Here we review hypodontia and describe the patterns of inheritance it can display. A short review of tooth development and a primer in human genetics are presented. Approaches used to determine the underlying cause for various forms of hypodontia are discussed and information about genes discovered to date is reviewed. The role that the dental hygienists can play in facilitating the discovery of novel genes for hypodontia is illustrated.

Anodontia↗
PubMed2001

[Analysis of the parkin gene deletion mutations in Chinese patients with Parkinson's disease].

OBJECTIVE: Clarify parkin gene deletion mutations at exons 3 to 7 in Chinese patients with Parkinson's disease (PD) and analyze them together with the clinical features of PD. METHODS: DNA was extracted from peripheral blood of 33 sporadic PD patients and 6 familial PD patients. Deletion mutations of parkin gene were identified by PCR amplification and agarose gel electrophoresis. The clinical data were analyzed together with the above information. RESULTS: Of the 33 sporadic PD patients, 1 had exons 5 and 7 deletion, 2 had exon 7 deletion. The age of onset was 46, 48, 50 respectively. In the 6 familial PD patients, 1 had exon 5 deletion. The inheritance pattern in this patient was autosomal recessive and onset of the patient was 60. All of the patients who had parkin gene deletion mutations had tremor, rigidity and bradykinesia, but athetosis was not found. In addition, deletion mutations of parkin gene at exons 3, 4 and 6, were not found. CONCLUSION: There are deletion mutations of parkin gene at exons 5 and 7 in Chinese PD patients.

Adolescent↗
PubMed2005

Mitochondrial hepatopathies.

Hepatocyte mitochondrion functions as a cause and as a target of liver injury. Since the mitochondria are under dual control of nuclear DNA and mitochondrial DNA (mtDNA), mutations in genes of both classes have been associated with inherited mitochondrial hepatopathies. Point mutations, deletions, insertions, rearrangements, DNA depletion--all have been identified. Many factors influence the prevalence of mitochondrial disorders, including the mutations rate, inheritance pattern, population structure, and the genetic background. In primary disorders, mitochondrial defect is the primary cause of liver disease often producing fatal hepatic failure in infancy or childhood. In secondary disorders, insult to mitochondria is caused by either a gene defect that affects non-mitochondrial proteins or by an exogenous injury to mitochondria. Diagnosis should be suspected in cases of liver disease with neuromuscular symptoms, multisystem involvement that cannot be explained by a single pathology or rapidly progressive liver failure in early childhood. Laboratory findings in the blood and urine show an altered redox status. Various antioxidants, vitamins, cofactors, and electron acceptors have been for proposed but none is effective. Presence of neuromuscular or extraintestinal involvement in primary disorder precludes the use of liver transplantation.

DNA Mutational Analysis↗
PubMedDate not supplied

[Genetic linkage analysis of Gilles de la Tourette Syndrome in a Colombian family].

INTRODUCTION: Gilles de la Tourette Syndrome (GTS) is a chronic neuropsychiatric disorder characterized by phonic and motor tics. Although its physiopathologic bases are unknown, the cortical-striatal-thalamic-cortical circuit has been studied. The association of GTS with attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), motors tics (MT) or phonics tics (PT), the high family aggregation, and the concordance studies in twins, support the genetics bases of this disorder. Currently, GTS is accepted as a complex disorder and the associated disorders could be alternative expressions of the same syndrome. AIM: To evaluate genetic linkage to 2p11, 6p24, 11q23, 20q13 and 21q22 regions in an Antioquian family with enough power to detect linkage. PATIENTS AND METHODS: With the Linkage program and using autosomic dominant, recessive and additive inheritance models, the genetic linkage was calculated; two phenotypic spectra was considered: one broad spectrum including affected individuals with GTS, ADHD, OCD, MT, and PT, and a narrow spectrum with only GTS. RESULTS: The most probable inheritance pattern for a susceptibility locus in GTS and its associated disorders in this family is autosomic additive. The presence of a locus involved in GTS in the 2p11 region has been rejected. CONCLUSION: The linkage values for D20S1085 and D6S477 markers are suggestive and therefore it is not possible reject that these markers will be in linkage disequilibrium with genes involved in the GTS, ADHD, OCD, MT, and PT etiology.

Adolescent↗
PubMed2005

Disseminated Bacille Calmette-Guérin disease as the initial presentation of X-linked severe combined immunodeficiency--a case report.

Bacille Calmette-Guerin (BCG) vaccination is used to prevent severe M. tuberculosis infection. It has been used in many countries for a long time. However, complications do occur, including localized abscesses, regional lymphadenitis and disseminated disease. The latter is often associated with underlying immunodeficiency. We report an 8-month-old male infant presenting with cough and fever who had had a generalized pigmented skin rash for one month. Skin biopsy revealed mycobacterial infection, but his response to treatment was poor and he had a persistent mild fever. Immunological studies revealed an IgG of 49 mg/dl, IgA 4 mg/dl, IgM 28 mg/dl, IgE < 1 mg/dl, CD3 1.1%, CD4 0.6%, CD8 0.6%, CD19 93.9%, CD57 1.1%, activated T cells 0.9%, and CH50 < 6.3%. These findings are compatible with the diagnosis of T(-)B(+)NK- severe combined immunodeficiency. Sequence analysis was performed and showed the presence of missense mutation in IL2Rgamma gene. An X-linked recessive inheritance pattern was proved by sequence analysis of his mother and grandmother. In order to identify the strain of the microorganism, we reviewed pathology of the skin biopsy which consisted of diffuse histiocytic infiltrate with poorly formed granulomas and no necrosis and used polymerase chain reaction (PCR) with the stain-positive clinical specimen and verify the organism found in the child's biopsy as M. bovis BCG strain. The diagnosis of disseminated BCG disease must be considered in any infant with cutaneous mycobacterial lesions, especially with atypical histologic findings. Such a patient's immunologic status should be evaluated and further family study is suggested. A high index of suspicion is needed to make a timely diagnosis, as early intervention with intensive treatment and bone marrow transplantation may be life-saving.

BCG Vaccine↗
PubMed2006

L-2-hydroxyglutaric aciduria: a report of six cases and review of the literature.

L-2-hydroxyglutaric aciduria is a rare and novel autosomal recessive inherited neurometabolic disorder. Since its first description by Duran in 1980, less than 100 cases have so far been reported. Occurring mostly in childhood, it is characterized by slowly progressive neurological dysfunction with cerebellar ataxia, pyramidal signs, intellectual decline, seizure, and extrapyramidal symptoms. MRI scanning is highly characteristic and screening for organic acid (L-2-hydroxyglutaric acid) in urine, serum, and cerebrospinal fluid is diagnostic. We investigated six Iranian children, aged 4, 14, 16, and 16 years, (the last one had two affected brothers and both of them died of similar illness at the ages of 20 and 22), by urinary organic acids assay and MRI scanning with suspicion of this rare disorder. Symptoms were suspicious for one of the leukoencephalopathies accompanied by macrocephaly. Affected cases were evaluated because of mild to moderate psychomotor retardation and regression. Head circumferences were above 2 standard deviations. Urine levels of L-2-hydroxyglutaric acid were strongly increased. MRI scanning of the brain showed hyperintense signal on T2W images of the subcortical white matter and basal ganglia in all of them. Because of its inheritance pattern (autosomal recessive) and the high rate of consanguineous marriages in Iran, the prevalence of this disorder might be high among the mentally-handicapped patients, especially those with macrocephaly. Therefore, this entity should be considered in the differential diagnosis of mentally-retarded patients with macrocephaly.

Adolescent↗
PubMed2006

[Clinical features and pathogenesis of Carney complex, a rare form of multiple endocrine neoplasia syndromes].

Carney-complex is the rarest and most recently described form of multiple endocrine neoplasia syndromes that is unique both from clinical and pathogenetic aspects. Clinical features include spotty skin pigmentation, cutaneous and cardiac myxomas, multiple endocrine abnormalities and schwannomas. The most characteristic endocrine abnormality is primary pigmented nodular adrenal hyperplasia that may result in clinically apparent Cushing's syndrome. Acromegaly, hyperprolactinaemia, tumours of the testis and ovaries have also been described. Approximately fifty percent of Carney-complex cases are familial, with an autosomal dominant inheritance pattern. About 45-65% of Carney-complex cases are related to mutations of the PRKAR1A gene encoding a regulatory subunit of protein kinase A, but other genetic mechanisms seem to be involved, as well. Here, the authors present a brief synopsis of its clinical and pathogenetical features.

Cyclic AMP-Dependent Protein Kinase RIalpha Subuni↗
PubMedDate not supplied

[Importance of genetic counseling and molecular diagnosis testing in families at high risk for cancer].

Individuals with a family history of certain cancer types are at higher risk to develop a malignancy during their lifetime. The availability of the family history is a basic component for genetic counseling of these patients to determine illnesses that may affect other family members. The family history can help us to identify some inheritance patterns of cancer transmission among families. Nowadays it is possible to identify by clinical and molecular testing many of these familial cancer syndromes. The objective of this review is to provide a basis to the physician who the patient contacts first, in order to recognize the possibility of illnesses with a genetic transmission. This will allow the treating physician to refer the patient to a genetic specialist for possible molecular diagnosis of the illness.

Genetic Counseling↗
PubMed1991

Prognostic significance of calcitonin immunoreactivity, amyloid staining, and flow cytometric DNA measurements in medullary thyroid carcinoma.

The proven power of DNA ploidy to predict mortality risk in medullary thyroid carcinoma (MTC) may be weakened when analyzed in conjunction with calcitonin immunoreactivity (CI) and amyloid staining (AS) of tumors. In this study 12 prognostic variables, including DNA ploidy, CI, and AS, were studied in 65 patients with MTC (57 sporadic; mean age 51 years) treated during 1946 through 1970. Cause-specific mortality rates at 10 and 15 years were 15% and 26%, respectively. By univariate analysis, TNM stages III or IV (p less than 0.0001), tumor unresectability (p less than 0.0001), male sex (p = 0.019), negative AS (p = 0.032), and low CI (p = 0.033) were significant predictors of increased mortality rates. DNA ploidy (p = 0.058) and inheritance pattern (p = 0.25) were nonsignificant. By multivariate analysis, only TNM stage, tumor resectability, and AS were independently significant (p less than 0.005). A prognostic model was created, based on presence or absence of these independent risk factors, and four risk groups were defined, capable of predictably defining mortality rates in MTC (p less than 0.0001). The model requires validation in larger series and independent verification by others. However, we believe that a risk-group scheme for MTC based on AS, disease stage, and completeness of tumor resection may have wide applicability and prove relevant to clinicians treating this disease.

Adolescent↗
PubMedDate not supplied

Paternity inclusion in the presence of multiple exclusions.

The resolution of a paternity case is presented in which two indirect exclusions were found for the alleged father during routine paternity testing. Genetic studies on family members of the alleged father elucidated the inheritance pattern within the phosphoglucomutase (PGM1) and Duffy (Fy) blood group systems.

Alleles↗
PubMed1991

The gastrointestinal tract in Down syndrome.

Down Syndrome is recognized as one of the most common predisposing conditions for a group of serious gastrointestinal (GI) anomalies. Tracheo-esophageal fistula, duodenal obstruction with or without pyloric stenosis, annular pancreas, imperforate anus and Hirschsprung's disease are the most prevalent lesions. Understanding of the morphogenetic mechanisms responsible for this range of abnormalities is far from clear, as none of the lesions is specific to the trisomic state and the underlying defects (i.e., failure of foregut canalization, failure of neural crest cell migration into the myenteric and submucosal plexuses or malformation of the anterior abdominal wall, etc) are encountered in unaffected infants. Segregation analysis of inheritance patterns points to multi-factorial traits and random genetic action provide appropriate models (to a certain extent) for describing the observations. Furthermore, intestinal anomalies can be found in many other genetic disorders, with recent evidence suggesting the presence of GI developmental regulatory genes on chromosome 13q. A possible common pathway to the observed anomalies might be enhanced epithelial adhesiveness, as demonstrated in vitro experiments with fibroblasts. Molecular genetic techniques applied to the smallest human autosome could provide the needed insight into the ultimate mechanisms determining morphogenesis. The development of a murine model is a promising tool for the successful approach to these extraordinarily complex questions.

Digestive System↗
PubMed1991

Familial occurrence of bilateral renal agenesis.

The 58 cases of bilateral renal agenesis (Potter syndrome) registered in the Genetic Counselling unit of our institute in the last 12 years are reviewed. The only familial recurrent case which has been prenatally diagnosed is described in detail. A urinary bladder anomaly like that of the subsequent third child has not been previously reported. The authors analyze the possible inheritance patterns. They suggest the malformation is a genetically heterogeneous entity. They emphasize that nowadays the birth of a newborn with bilateral renal agenesis can be prevented in all cases.

Congenital Abnormalities↗
PubMedDate not supplied

[Hypophosphatasia: a family study].

Diagnostic pathway and 5-years follow-up of a case of childhood-form hypophosphatasia (a severe form of vitamin D resistant rickets) are described. Family study led to the identification of five affected relatives (father, sister, paternal uncle, first-cousins), two with severe clinical evidence. Inheritance pattern in this family is compatible with autosomal dominant transmission.

Adult↗
PubMedDate not supplied

Nail patella syndrome: a review of 44 orthopaedic patients.

Nail patella syndrome is a rare dysplasia with characteristic findings of finger nail abnormalities, hypoplastic patellas, radial head dislocations, and iliac horns. We reviewed the problems and treatment of 44 patients with this syndrome from 13 Shriners Hospital units. The inheritance pattern is autosomal dominant, with foot abnormalities as the chief presenting complaint. All patients were ambulatory. Twenty of the patients underwent knee operations, and 24 underwent operations to correct foot and ankle deformities. Knee extensor realignments and foot posteromedial releases had overall good results. Knee flexion contractures required full posterior capsular releases. Elbow reconstructive procedures were rarely indicated.

Child↗