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Large deletion of the 5' end of the ROMK1 gene causes antenatal Bartter syndrome.
Laboratory of Biochemistry, Armand Trousseau Hospital, Paris, France.
Mutations in exon 5 of the ROMK1 gene (KCNJ1) have recently been observed in antenatal Bartter syndrome patients. This study describes a homozygous deletion removing KCNJ1 exons 1 and 2 observed in a consanguineous family with antenatal Bartter syndrome. Absence of the untranslated exon 1 led to the deletion of transcription elements located in this exon that may cause the disease. Deletion of exon 1 transcription elements should lead to the absence of hROMK2-K5 transcripts, whereas hROMK1 transcripts should normally be transcripted. Consequently, probably only hROMK2-K5 transcripts are expressed in the medullary thick ascending limb of Henle.
PMID: 9848791 [PubMed - indexed for MEDLINE]
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Patient Drug Information
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Potassium (Glu-K® , K+ 10® , K+ 8® , ...)
Potassium is essential for the proper functioning of the heart, kidneys, muscles, nerves, and digestive system. Usually the food you eat supplies all of the potassium you need. However, certain diseases (e.g., kidney dis...