A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I.
Journal
Annals of human genetics
ISSN: 1469-1809
Titre abrégé: Ann Hum Genet
Pays: England
ID NLM: 0416661
Informations de publication
Date de publication:
09 2019
09 2019
Historique:
received:
11
10
2018
revised:
18
02
2019
accepted:
26
03
2019
pubmed:
13
4
2019
medline:
12
6
2020
entrez:
13
4
2019
Statut:
ppublish
Résumé
Four affected individuals of consanguineous kindred presented at infancy with an apparently autosomal recessive syndrome of polyuria and hypokalemic metabolic alkalosis, following maternal polyhydramnios and premature delivery, culminating in severe failure to thrive. Hypercalciuria, nephrocalcinosis, and hyperaldosteronism were further apparent as well as an unusual finding of intermittent hypernatremia. Additionally, all patients demonstrated variable micrognathia with upper respiratory airway abnormalities. As neither postnatal hyperkalemia nor permanent hearing deficits were shown, clinical assessment was consistent with antenatal Bartter syndrome (ABS) type I, which was never described before in the Israeli Bedouin population. Through genome-wide linkage analysis, we identified a single ∼3.3 Mbp disease-associated locus on chromosome 15q21.1, segregating within the pedigree. Whole-exome sequencing revealed a single novel homozygous missense mutation within this locus, in SLC12A1, encoding the Na-K-Cl cotransporter, NKCC2, in accordance with the clinical diagnosis. In this concise study, we report a novel missense mutation within the SLC12A1 gene, causing a severe form of ABS type I, the first to be described in Israeli Bedouins, with unusual clinical features of hypernatremia caused by nephrogenic diabetes insipidus and putatively related micrognathia with upper airway abnormalities .
Substances chimiques
SLC12A1 protein, human
0
Solute Carrier Family 12, Member 1
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
361-366Subventions
Organisme : Legacy Heritage Bio-Medical program of the Israel Science Foundation grant
ID : No. 1798/16
Pays : International
Organisme : National Knowledge center for Rare/Orphan Diseases sponsored by the Israel Ministry of Science, Technology and Space
Pays : International
Informations de copyright
© 2019 John Wiley & Sons Ltd/University College London.
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