Search

Copyright of Quaestiones Disputatae is the property of Universidad Santo Tomas, Seccional Tunja and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background Autosomal recessive distal renal tubular acidosis ( dRTA) is a rare disease characterized by a hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis, and conserved glomerular filtration rate. In some cases, neurosensorial deafness is associated. dRTA is developed during the first months of life and the main manifestations are failure to thrive, vomiting, dehydration, and anorexia. Methods Nine unrelated families were studied: seven children, a teenager, and an adult with dRTA. Hearing was preserved in four children. Coding regions of the genes responsible for recessive dRTA were analysed by Sanger sequencing. Results Molecular defects were found in the genes ATP6V1B1 and ATP6V0A4. We identified three homozygous variants in ATP6V1B: a frameshift mutation (p.Ile386Hisfs*56), a nucleotide substitution in exon 10 (p.Pro346Arg), and a new splicing mutation in intron 5. Three patients were homozygous for one novel (p.Arg743Trp) and one known (p.Asp411Tyr) missense mutations in the ATP6V0A4 gene. Three patients were compound heterozygous: one proband displayed two novel mutations, the frameshift mutation p.Val52Metfs*25, and a large deletion of exons 18-21; two probands showed the missense mutation p.Asp411Tyr and as a second mutation, p.Arg194Ter and c.1691+2dup, respectively. Conclusion ATP6V0A4 and ATP6V1B1 genes were involved in recessive dRTA of Mexican families. All ATP6V1B1 mutations detected were homozygous and all patients developed sensorineural hearing loss (SNHL) early in infancy. ATP6V0A4 mutations were found in one infant and three children without SNHL, and in one teenager and one adult with SNHL confirming the phenotypic variability in this trait. The mutation p.Asp411Tyr detected in four Mexican families was due to a founder effect. Screening of these mutations could provide a rapid and valuable tool for diagnosis of dRTA in this population. [ABSTRACT FROM AUTHOR]

Description of six Colombian karyomorphs is completed through an extensive cytogenetic characterization of 35 Aotus (owl monkeys) specimens. The description of a new karyomorph for Colombian Aotus by chromosome on Q, G, R, and C, sequential banding is included. Pairs of karyomorphs 2 and 3 and 6 and 9 with 2n of 54, and 50, respectively, as well as karyomorphs 7 and 8 with 46 and 58 chromosomes were strongly suspected to represent different species on the grounds of large karyotypic differences. A proposal for a chromosome nomenclature of Aotus karyomorphs that aims to clarify Aotus taxonomy is presented which achieves a precise correspondence of different banding patterns, based on Q, G, R, and C sequential banding and chromosome measurements. Although our contribution is not a universal nomenclature system, unique criteria for chromosome denomination within Aotus karyomorphs are established. Previous systems of chromosome nomenclature have not successfully addressed the nomenclature of chromosomes of the same karyotype. Am. J. Primatol. 44:255–275, 1998. © 1998 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]