Novel molecular variants of the Na-K-2C cotransporter gene are responsible for antenatal Bartter syndrome

Article Abstract:

Antenatal Bartter syndrome has been studied by researchers who have analyzed 15 probands from 13 families.They carried out SSCP analysis of the coding sequence and the exon--intron boundaries of the NKCC2 gene. Fourteen novel mutations were found. Three isoforms of human NKCC2 that arise from alternative splicing have been identified. Antenatal Bartter syndrome is a variant of inherited renal-tubular disorders associated with hypokalemic alkalosis. The disorder presents as a life-threatening condition beginning in utero, with very definite fetal polyuria that leads to premature delivery with polyhydramnios. Marked hypercalciuria occurs with osteopenia and nephrocalcinosis. Novel molecular variants of the Na-K-2C cotransporter gene are the basis of the syndrome.

Hyperaldosteronism, Hypercalciuria

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Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome

Article Abstract:

Multiple molecular mechanisms which are responsible for subdiagnostic Marfan syndrome (MFS) variants are discussed from the perspective of the study of the relationship between the FBN1 genotype and phenotype in families with extremely mild phenotypes and families with striking clinical variation in those apparently affected. Diagnostic applications and counseling implications exist for the syndrome, a systemic autosomal dominant disorder of connective tissue related to the FBN1 gene, encoder for fibrillin-1.

Statistical Data Included, Marfan syndrome, Connective tissues, Connective tissue

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Genotype-phenotype relationships in ataxia-telangiectasia and variants

Article Abstract:

Ataxia-telangiectasia (A-T) has ATM as the underlying gene. It encodes a large protein kinase with a phosphatidylinositol 3-kinase-like domain. ATM protein levels have been measured in six A-T variants and the ATM genes searched for mutations. Findings show there is a larger range of phenotypes associated with ATM mutations than had been known and show that some A-T variant phenotypes come from ATM mutations. Some of those are without telangiectasia. A-T is a complex multisystem autosomal recessive disorder.

Italy, Israel, Cellular signal transduction, Ataxia telangiectasia

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