SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report

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Horita S., Şimşek E., Şimşek T., Yıldırım N., Ishiura H., Nakamura M., ...Daha Fazla

BMC MEDICAL GENETICS, cilt.19, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1186/s12881-018-0612-y
  • Dergi Adı: BMC MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: SLC4A4, NBCe1, Proximal renal tubular acidosis, Compound heterozygous mutations, mRNA surveillance, Nonsense-mediated decay, SPLICE ACCEPTOR SITE, FUNCTIONAL-ANALYSIS, COTRANSPORTER NBCE1, MISSENSE MUTATION, GENE SLC4A4, RNA, NONSENSE, IDENTIFICATION, MECHANISM, TRANSPORT
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Background: Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and band keratopathy. To date, almost all mutations have been found to be homozygous mutations located in exons.