Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Bartter Syndrome / embryology
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Bartter Syndrome / genetics*
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Consanguinity
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Exons / genetics
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Female
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Fetal Diseases / genetics*
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Homozygote
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Humans
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Infant, Newborn
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Loop of Henle / metabolism
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Male
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Pedigree
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Polymorphism, Single-Stranded Conformational
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Potassium Channels / biosynthesis
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Potassium Channels / genetics*
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Potassium Channels, Inwardly Rectifying*
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Protein Isoforms / genetics*
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RNA, Messenger / biosynthesis
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RNA, Messenger / genetics
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Regulatory Sequences, Nucleic Acid
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Sequence Deletion*
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Transcription, Genetic
Substances
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KCNJ1 protein, human
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Potassium Channels
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Potassium Channels, Inwardly Rectifying
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Protein Isoforms
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RNA, Messenger