Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome

Key Clinical Message A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 inversion and 8p11.1-q12.3 marker chromosome containing subregions with differing mosaicism and allele frequencies. This case highlights the potential requirement for multiple genetic methods to gain insight into genotype–phenotype correlation, and ultimately into molecular mechanisms that underlie human disease

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Background Musculocontractural Ehlers-Danlos syndrome is caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE). Although 48 patients in 33 families with mcEDS-CHST14 have been reported, the spectrum of pathogenic variants, accurate prevalence of various manifestations and detailed natural history have not been systematically investigated. Methods We collected detailed and comprehensive clinical and molecular information regarding previously reported and newly identified patients with mcEDS-CHST14 through international collaborations. Results Sixty-six patients in 48 families (33 males/females; 0-59 years), including 18 newly reported patients, were evaluated. Japanese was the predominant ethnicity (27 families), associated with three recurrent variants. No apparent genotype-phenotype correlation was noted. Specific craniofacial (large fontanelle with delayed closure, downslanting palpebral fissures and hypertelorism), skeletal (characteristic finger morphologies, joint hypermobility, multiple congenital contractures, progressive talipes deformities and recurrent joint dislocation), cutaneous (hyperextensibility, fine/acrogeria-like/wrinkling palmar creases and bruisability) and ocular (refractive errors) features were observed in most patients (>90%). Large subcutaneous haematomas, constipation, cryptorchidism, hypotonia and motor developmental delay were also common (>80%). Median ages at the initial episode of dislocation or large subcutaneous haematoma were both 6 years. Nine patients died; their median age was 12 years. Several features, including joint and skin characteristics (hypermobility/extensibility and fragility), were significantly more frequent in patients with mcEDS-CHST14 than in eight reported patients with mcEDS-DSE. Conclusion This first international collaborative study of mcEDS-CHST14 demonstrated that the subtype represents a multisystem disorder with unique set of clinical phenotypes consisting of multiple malformations and progressive fragility-related manifestations; these require lifelong, multidisciplinary healthcare approaches.Genetics of disease, diagnosis and treatmen

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.

KEY CLINICAL MESSAGE: A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 inversion and 8p11.1-q12.3 marker chromosome containing subregions with differing mosaicism and allele frequencies. This case highlights the potential requirement for multiple genetic methods to gain insight into genotype–phenotype correlation, and ultimately into molecular mechanisms that underlie human disease

Cover crop and nitrogen effects on maize productivity in no-tillage systems of the brazilian Cerrados

International audienceCover crops in direct seeding mulch-based cropping (DMC) systems can be an effective tool to optimize N management for crop Production in the Brazilian cerrados. The objective of this study was to determine the effect of four cover crops on maize (Zea mays L.) grain yields in two fields that had been under DMC for 3 and 14yr. We hypothesized that cover crops would optimize N supply to the maize crop, thereby leading to increased yields. Cover crop treatments were: bare fallow (BF), pigeon pea (PP) [Cajanus cajan (L.) Huth], pearl millet [Pennisetum glaucum (L.) R. Br.]-Congo signal grass (PM-CS) (Brachiaria ruziziensis Germain & Evrard), pigeon pea-finger millet (PP-FM) [Eleusine coracana (L.) Gaertn.], and sorghum (S) [Sorghum bicolor (L.) Moench]. Experiments were conducted during the 2003-2004 and 2004-2005 growing seasons. In 2003-2004 on the DMC-14 field, cover crops increased N uptake of zero-N fertilized maize with 25 to 66 kg N ha(-1) compared to BF, which resulted in an increase in grain yield of 0.4 to 2.4 Mg ha(-1). Effects on fertilized maize were much less. The highest yield benefits were obtained with pigeon pea and sorghum as sole cover crop. No significant cover crop effects were recorded in 2004-2005. Nitrogen losses under maize estimated on the basis of a simple soil mineral nitrogen balance ranged from 40 to 90 kg N ha(-1) in 2003-2004, while they were smaller in 2004-2005 (10-25 kg N ha(-1)), presumably due to the lower rainfall. Cover crops can have an immediate positive effect on maize productivity tinder DMC in the cerrados, provided that they are sown immediately after harvest of the main cro