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Biomedical subjects

J F Mattei

Publications and source records attributed to J F Mattei.

At least 37 records · Page 2Linked to original sources
PubMed1993

Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome.

We used probes from the juxta-centromeric region of the chromosome 17 short arm to map three microdeletions in patients with Smith-Magenis syndrome. The common clinical findings were: speech delay with behavioural problems associated with broad flat midface, brachycephaly, broad nasal bridge and brachydactyly. We demonstrated, using Southern blot analysis (loss of heterozygosity and gene dosage), that all patients were deleted for two p11.2 markers: pYNM 67-R5 (D17S29) and pA10-41 (D17S71). We determined that one breakpoint was located between D17S58 and D17S29 and the other breakpoint distal to D17S71. The possibility that an unstable region, located between the Smith-Magenis syndrome locus and CMT1A a closely located locus, could be involved in the rearrangements associated with these two inherited diseases is discussed.

Abnormalities, Multiple↗
PubMed1993

The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

Juberg-Marsidi syndrome (McKusick 309590) is a rare X-linked recessive condition characterized by severe mental retardation, growth failure, sensorineural deafness, and microgenitalism. Here we report on the genetic mapping of the Juberg-Marsidi gene to the proximal long arm of the X chromosome (Xq12-q21) by linkage to probe pRX214H1 at the DXS441 locus (Z = 3.24 at theta = .00). Multipoint linkage analysis placed the Juberg-Marsidi gene within the interval defined by the DXS159 and the DXYS1X loci in the Xq12-q21 region. These data provide evidence for the genetic distinction between Juberg-Marsidi syndrome and several other X-linked mental retardation syndromes that have hypogonadism and hypogenitalism and that previously. Finally, the mapping of the Juberg-Marsidi gene is of potential interest for reliable genetic counseling of at-risk women.

Abnormalities, Multiple↗
PubMed1992

Prenatal diagnosis of Fryns' syndrome.

We report on a new case of ultrasonographic prenatal diagnosis of Fryns' syndrome during the second pregnancy of a young woman whose first child died 90 min after birth and was diagnosed as having this autosomal recessive condition. The feasibility of diagnosis in utero and timing in the phenotypic expression of this multimalformation syndrome are discussed.

Abnormalities, Multiple↗
PubMed1992

Physical mapping of an Xq-proximal interstitial duplication in a male.

A viable duplication in the proximal long arm of the X chromosome in a boy with a malformative syndrome was delineated with molecular biology techniques using 14 probes from the X cen-Xq21 region. This analysis allowed us to refine the physical map of the X cen-Xq13 region.

Abnormalities, Multiple↗
PubMed1992

[Vitamin D-resistant rickets type II: apropos of 2 cases].

We present two cases of vitamin D-dependent rickets type II, a rare disease caused by a hereditary disorder of the receptor for 1,25 dihydroxyvitamin D (1,25 (OH) 2 D). The first patient was seen for the first time at the age of 2 years with florid rickets, almost complete alopecia, and an elevated plasma level of 1,25 (OH) 2 D; there was no improvement following treatment with 1 alpha-hydroxy-vitamin D3). The second patient, a boy whose parents are first cousins, was seen at the age of 7 years with severe rickets, partial alopecia and an elevated serum level of 1,25 (OH) 2 D; the rickets disappeared after administering high doses of 1 alpha hydroxyvitamin D3 and vitamin D.

Alopecia↗
PubMed1992

[Molecular biology in genetic counseling of Duchenne and Becker myopathy].

From 1985-1991, molecular biology studies were carried out in 115 families affected with X-linked muscular dystrophy (DMD/BMD), including 59 prenatal diagnoses. The approach has changed over the last 6 years when new intragenic markers and cDNA probes became available. The polymerase chain reaction technique allows a rapid detection of dystrophin deletions, but classical Southern blot technique remains useful for restriction length polymorphism analysis. Fifty percent (42/85) of patients with DMD/BMD exhibited deletions of the dystrophin gene. In affected families with a detectable deletion, carrier detection is possible by gene dosage analysis and prenatal diagnosis is reliable. When no deletion is found, carrier detection and prenatal diagnosis depends on linkage analysis using polymorphic probes. Due to the high recombination rate, several markers need to be used. The information provided by linkage analysis must be interpreted given the proper family structure.

Female↗
PubMed1992

[Fragile X syndrome: current knowledge].

Fragile X syndromes is a disease characterized by the association of mental retardation and dysmorphic features to a fragile site on Xq27-3. It is a frequent genetic disorder (1 in 1,500 males) recognized only 20 years ago but remaining difficult to understand, because its transmission among generations does not correspond to the classical model of recessivity linked to chromosome X. In fact, carrier females can express the disease and transmitting males can be normal. With DNA probes, molecular biology has contributed to genetic counselling and prenatal diagnosis. Restriction polymorphisms have long been used to study the inheritance of fragile X syndrome and DNA markers' analysis improved risk estimates for carriers. From a clinical viewpoint, there was a need for more closely linked probes to help in prenatal diagnosis and to assess carrier status and hence reduce risk of recombination. In 1991, new probes allowed direct diagnosis of the Fra (X) mutation and a gene was sequenced. Nevertheless the understanding of the mechanism involved in the underlying mutation is still unknown. Geneticists, cytogeneticists and biologists must collaborate further to elucidate the fragile site mystery.

Chromosome Mapping↗
PubMed1991

Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.

Interstitial deletion of the short arm of chromosome 17 was detected in three patients. They all had a similar phenotype with mental retardation, behavioural problems, facial dysmorphism, brachycephaly, a broad face with a flat midface, and short and broad hands. All three cases were ascertained over a six month period by two neuropaediatricians aware of this specific anomaly, which suggests that this microdeletion is not particularly rare. Comparison of the clinical and cytogenetic findings in a total of 24 patients allows a new contiguous gene syndrome to be defined that only high resolution analysis can detect. In two cases, molecular analysis confirmed the cytogenetic results. The Charcot-Marie-Tooth type Ia gene has recently been localised to the 17p11.2 sub-band.

Abnormalities, Multiple↗
PubMed1991

[Prenatal diagnosis and psychiatric diseases: "to be normal or not to be"].

Recent developments in molecular biology have broadened the scope of antenatal diagnosis to include multifactorial diseases whose expression is unpredictable, variable and delayed. These diseases include some psychiatric conditions. These new capabilities raise difficult ethical problems which lead the authors to a more general discussion of antenatal diagnosis and its objectives.

Chromosome Aberrations↗
PubMed1990

Down syndrome critical region around D21S55 on proximal 21q22.3.

We have analysed the DNA of 2 patients with many manifestations of Down syndrome and partial duplication of distinct regions of chromosome 21, respectively, q11.205----q22.300 and q22.300----qter (Rahmani et al.: Proceedings of the National Academy of Sciences of the United States of America 86:5958-5962, 1989). Assessment of the copy number of five chromosome 21 sequences (SOD1, D21S17, D21S55, ETS2, and D21S15) has shown that D21S55 was duplicated in both cases. The size of the common duplicated region can be estimated between 400 and 3,000 Kb, after the results of pulsed-field gel analysis and from the knowledge of regional mapping of the probes D21S17, D21S55, and ETS2. This region, located on the proximal part of 21q22.3, is postulated to contain genes the overexpression of which plays a major role in the pathogenesis of Down syndrome.

Child↗
PubMed1990

Socio-cultural inequities in access to prenatal diagnosis: the role of insurance coverage and regulatory policies.

The article presents the results of a 4-month-period survey by questionnaire among all women attending the Marseille Centre for Prenatal Diagnosis for amniocentesis. Socio-cultural status of women getting access to amniocentesis is significantly higher than in the general population of pregnant women in the same geographic area of south-eastern France. Socio-cultural status is also higher among women who have to cover costs of procedure to get access to amniocentesis than among those who benefit from it free-of-charge according to French Social Security regulations. In contrast, risk perception and attitudes toward termination of pregnancy are similar in these two groups. A total of 24.4 per cent of respondents declared that they got access to amniocentesis 'on their own initiative', the remaining 75.6 per cent declaring that they 'were following medical advice'. Multidimensional analysis shows that the women who do not benefit from free-of-charge amniocentesis, and who have a high level of education and no antecedents of fetal and perinatal deaths, are more likely to perceive themselves as 'self-referring'. The study indicates that institutional coverage may be effective in reducing socio-cultural inequities in access to prenatal diagnosis. But such a policy may conflict with the respect of women's individual autonomy in the amniocentesis decision.

Adult↗
PubMed1990

Assignment of the gene for neuroendocrine protein 7B2 (SGNE1 locus) to mouse chromosome region 2[E3-F3] and to human chromosome region 15q11-q15.

The gene for 7B2, a protein found in the secretory granules of neural and endocrine cells (gene symbol SGNE1) was localized to the E3-F3 region of mouse chromosome 2 and to the q11-q15 region of human chromosome 15. This was determined by in situ hybridization, using a mouse 7B2 cDNA and an intronic fragment of the corresponding human gene as probes. The respective locations of SGNE1 in the two species correlate with the conservation of loci between these subregions of mouse chromosome 2 and human chromosome 15. Clinically, the human SGNE1 DNA fragment may serve as a molecular probe of this locus in both the Prader-Willi and the Angelman syndromes, which are often accompanied by submicroscopic chromosomal deletions in the 15q11-15q13 region.

Animals↗
PubMed1990

Assignment of the mouse desmin gene to chromosome 1 band C3.

The chromosomal localization of the mouse gene coding for desmin, one of the muscle-specific intermediate filament subunits, was determined by in situ hybridization using a specific 3H-labelled DNA probe. There is only one copy of the desmin gene and it is located on chromosome 1 in the band C3. This result adds an eleventh locus to a conserved gene cluster and confirms the partial homology that exists between the long arm of human chromosome 2 and chromosome 1 of the mouse.

Animals↗
PubMed1990

Fine mapping of the long arm of human chromosome 11 by in situ hybridization using different translocations, including the t(11;22) of Ewing sarcoma.

The progesterone receptor gene (PGR), the gene coding for porphobilinogen deaminase (PBGD), the gene coding for a neural cell adhesion molecule (NCAM), the oncogene ETS1, and the anonymous genomic sequence D11S29 have been previously located on the long arm of chromosome 11. However, gene localizations obtained with different gene-mapping procedures have led to occasional discrepancies. To localize these genes more precisely, we hybridized five human DNA sequences with different chromosomal rearrangements, including four balanced and one unbalanced translocations. We show here that the order of these five sequences is cen-PGR-PBGD-DIIS29/NCAM/ETS1-tel.

Cell Adhesion Molecules, Neuronal↗