A new deep-sea balanomorph barnacle (Cirripedia: Thoracica: Bathylasmatidae) from Chile.

Deep waters of the South Pacific off northern Chile remain poorly studied, particularly in regard to invertebrate faunas. Some recent works include new records on deep-water species, mostly from the bycatch of benthic fisheries concentrated along the continental margin of the country. Among these, a few specimens of an unidentified bathylasmatine balanomorph were collected off Caldera, northern Chile, and they are described here as Bathylasma chilense sp. nov. While this is the second report of a bathylasmatid in the Eastern Pacific Ocean, the first being Tetrachaelasma southwardi Newman & Ross, 1971, it is not only the first but the deepest known (1800-2000 m) species of Bathylasma. Its discovery increases the number of described Bathylasma species to eight, four of which are extant. This is the third deep-water balanomorph cirriped recorded for the region where it may represent an isolate from a West Wind Drift fauna, an immigrant from the western Pacific, or a relict of a once cosmopolitan Paleocene-Eocene fauna now having an amphitropical component.

Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.

OBJECTIVE: To delineate the phenotypic and molecular spectrum of patients with a syndromic variant of severe congenital neutropenia (SCN) due to mutations in the gene encoding glucose-6-phosphatase catalytic subunit 3 (G6PC3). STUDY DESIGN: Patients with syndromic SCN were characterized for associated malformations and referred to us for G6PC3 mutational analysis. RESULTS: In a cohort of 31 patients with syndromic SCN, we identified 16 patients with G6PC3 deficiency including 11 patients with novel biallelic mutations. We show that nonhematologic features of G6PC3 deficiency are good predictive indicators for mutations in G6PC3. Additionally, we demonstrate genetic variability in this disease and define novel features such as growth hormone deficiency, genital malformations, disrupted bone remodeling, and abnormalities of the integument. G6PC3 mutations may be associated with hydronephrosis or facial dysmorphism. The risk of transition to myelodysplastic syndrome/acute myeloid leukemia may be lower than in other genetically defined SCN subgroups. CONCLUSIONS: The phenotypic and molecular spectrum in G6PC3 deficiency is wider than previously appreciated. The risk of transition to myelodysplastic syndrome or acute myeloid leukemia may be lower in G6PC3 deficiency compared with other subgroups of SCN.