Large deletion of the 5' end of the ROMK1 gene causes antenatal Bartter syndrome.
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.
Feldmann
D
D
Laboratory of Biochemistry, Armand Trousseau Hospital, Paris, France.
Alessandri
J L
JL
Deschênes
G
G
D001477:Bartter Syndrome / Q000196:embryology / Q000235:genetics*; D003241:Consanguinity; D005091:Exons / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008138:Loop of Henle / Q000378:metabolism; D008297:Male; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D015221:Potassium Channels / Q000096:biosynthesis / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying; D020033:Protein Isoforms / Q000235:genetics*; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics; D012045:Regulatory Sequences, Nucleic Acid; D017384:Sequence Deletion; D014158:Transcription, Genetic
C086989:KCNJ1 protein, human; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D020033:Protein Isoforms; D012333:RNA, Messenger