L Faivre

..Exon 24-32 mutations define a high-risk group for cardiac manifestations associated with severe prognosis at all ages...

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..Diagnostic criteria should be a flexible and dynamic tool so that reclassification of patients with alternative diagnosis is possible, requiring regular clinical and aortic follow-up...

..However, overexpression of mutated PRF1 in rat basophilic leukemia cells did not affect the lytic function of perforin differently from the wild type protein...

..In conclusion, even if the exons 24-32 location appears as a major cause of the severity of the phenotype in patients with a mutation in this region, other factors such as the type of mutation or modifier genes might also be relevant...

..It also confirms that the overgrowth is of prenatal onset in those observations...

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..Using strict definitions, we conclude that patients with FBN1 mutation and only one major clinical criterion or with only minor clinical criteria of one or more organ system do exist but represent only 5% of the adult cohort...

..Pregnancies in DBA-affected women are at high risk, especially for complications likely to be of vascular-placental origin. Careful monitoring with prevention of severe anemia and early introduction of aspirin is suggested...

..Phenotypic variability in other patients with interstitial deletions including 15q21.1 band may reflect differences in deletion size and/or cys/trans modifying factors...

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..This case is of interest in the search for candidate genes and emphasizes the importance of the 22q11 region in PMG. It also highlights the efficiency of BACs-array in detecting complex rearrangements...

..This observation is of interest since it could be a clue in the search for the genes responsible for Goldenhar syndrome. This study demonstrates the utility of the array-CGH technology in detecting interstitial deletions...

..This widely accepted nomenclature would improve the reporting of the molecular defect observed in SMA patients and thus would avoid the commonly used but imprecise terminology "absence of SMN1 exon 7."..

..Since the chromosomal breakpoints have not previously been implicated in syndromic encephalocele, this observation is of interest for the identification of other genes responsible for occipital encephalocele...

..Furthermore, we emphasize the importance of a detailed ultrasound examination after a prenatal diagnosis of porencephaly...

..Finally, 58% would have preferred a letter sent specifically to them rather than a copy, and suggestions for the contents of such a letter should be further studied...

..Besides the classical approximately 1.5 Mb BP4-BP5 microdeletion, we also describe three index patients and two relatives with a smaller 500 kb microdeletion, including the CHRNA7 gene...

..Clinical features, including systemic, haematological and neurological abnormalities, usually occur in the first year of life. Adolescent and adult onset presentations are rare...

..The high frequency of R117H observed in CF newborn screening has also introduced diagnostic dilemmas. The aim of this study was to evaluate the disease penetrance for R117H in order to improve clinical practice...

..The description of additional cases would be useful in order to better characterize the phenotype of patients with proximal interstitial 20q deletion...

..This case is compared with the other of MVA syndrome previously reported in literature. From this case report, we suggest that microcephaly is not mandatory for the diagnosis of MVA syndrome...

..Second, it shows the importance of molecular cytogenetics in the study of de novo apparently balanced translocation with abnormal phenotype...

..We suggest that a chromosomal rearrangement should be ruled out when such corpus callosum lesions are identified...

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..This family report shows that a molecular analysis of the APC gene should be performed in familial desmoid tumors for accurate genetic counseling and follow-up...

..We conclude that the diagnosis of Juberg-Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate...

..Furthermore, we highlight the difficulties in prenatal diagnosis of Fraser syndrome...

..Little is known about opinions and practices in such reproductive issues in MFS. The goal of this study was to report on patients' points of view and geneticists' standard practices...

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..In conclusion, Pearson syndrome should be screened for in children presenting with the association of growth retardation, anaemia/pancytopaenia, lactic acidosis and tubulopathy, even in the absence of exocrine pancreatic deficiency...

..These data reveal an unsuspected high incidence rate of the renal impairment outcome in OFD I syndrome. A systematic ultrasound (US) and renal function follow-up is therefore highly recommended for all OFD I patients...

..We hypothesize that another gene, expressed early in embryogenesis and responsible for cloacal exstrophy, is present in the 9q34.1-qter region...

..CONCLUSION: Clinical, radiological and cytogenetic findings suggest that this phenotype is a new entity whose aetiopathogenesis may be functionally related to the filaminopathies...

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..This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition. Furthermore, we present a new argument for an autosomal recessive mode of inheritance for HFD...

..Based on the clinical overlap between the two syndromes, we tested the GNAS1 gene in blood leukocytes and skin fibroblasts of Patient 1, but found no evidence of an activating mutation in the GNAS1 gene...

..The mode of inheritance of this syndrome remains unknown since there was no significant family history in all reported cases. The search for infracytogenetic chromosomal imbalance was unsuccessful...

..Consequently, the reported features in this child are unique and are likely to represent a new syndrome...

..The association of VATER phenotype with a mitochondrial disorder may be coincidental but could also suggest that the presence of multiple malformations is the result of the antenatal expression of RCD...

..We conclude that characteristic hand abnormalities are not mandatory for the diagnosis of Desbuquois dysplasia...

..010), and cardiac anomalies (39% in AR, 13% in AD, Fischer 0.004). Nevertheless, we failed to distinguish AR from AD inheritance in individual cases. These results support the clinical homogeneity but the genetic heterogeneity of WMS...

..Moreover, it further delineates a specific phenotype related to trisomy 15q26.1-qter with macrosomia at birth, overgrowth, macrocephaly and mild developmental delay being the major clinical features...

..This finding, in combination with a sex ratio in favor of females and an increased morbidity and mortality in males, is highly suggestive of X-linked dominant inheritance...

..4 cM). We hope that our ongoing studies will lead to the identification of the disease-causing gene...

..To analyze the clinical features of hearing impairment and to search for correlations with the genotype in patients with DFNB1...

..We conclude, therefore, that ADAMTS10 plays a major role in growth and in skin, lens, and heart development in humans...

..Common features include segmentation abnormalities of the vertebrae and ribs. Here, we report on a fetal case with spondylocostal dysostosis, anal and genitourinary malformations and discuss Casamassima-Morton-Nance syndrome...

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..This study demonstrates the wide spectrum of severity and manifestations of OS. It also shows that XLOS patients with MID1 mutations may be less severely affected than indicated in prior reports...

..No MKS1 mutations were identified in this series, suggesting that the allelism is restricted to MKS3...

..RD is thus one of the most deleterious laminopathies identified so far in humans caused by (primary or secondary) A-type Lamin defects and nuclear structural and functional alterations...

..In contrast, loss-of-function mutations and hypomorphic mutations may cause IP in females...

..Our results also emphasize the higher prevalence of large insertions/deletions in ENG and the predominance of ACVRL1 over ENG mutations...

..In the diagnosis of juvenile cobalamin deficiency, mutational analysis of the CUBN, AMN, and GIF genes provides a molecular characterization of the underlying defect and may be the diagnostic method of choice...

..This report shows, on a molecular basis, that RHS is also an EEC-like syndrome resulting from mutations of the TP63 gene, and highlights the wide phenotypic spectrum associated to TP63 mutations...

..All sequence variations identified are either deletions of complete exons or predicted to result in a premature stop codon or to lead into splicing defects and are associated with a loss of considerable parts of the sedlin protein...

..The database is accessible online at http://www.umd.be (last accessed: 3 July 2007)...

..3 region. These results allow us to exclude this region as the locus in Desbuquois families with no hand anomalies and demonstrate genetic heterogeneity. Ongoing studies will hopefully lead to the identification of the responsible genes...

..We conclude that, although NPR-B is expressed in a number of tissues, its major role is in the regulation of skeletal growth...

..These results indicate that the new MitoChip platform is a rapid and valuable tool for identification of new mtDNA mutations in deafness...

..Our study emphasizes the care of older patients with Desbuquois dysplasia...

..Two of the three families have homozygous mutations and one has a heterozygous mutation. Mutations in BBS8 probably account for only a minority of BBS families (2%), underlining the difficulty of genotyping heterogeneous conditions...