Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

  • Cabezas, Oscar Rubio
  • Flanagan, Sarah E
  • Stanescu, Horia
  • García-Martínez, Elena
  • Caswell, Richard
  • Lango-Allen, Hana
  • Antón-Gamero, Montserrat
  • Argente, Jesús
  • Bussell, Anna-Marie
  • Brandli, Andre
  • Cheshire, Chris
  • Crowne, Elizabeth
  • Dumitriu, Simona
  • Drynda, Robert
  • Hamilton-Shield, Julian P
  • Hayes, Wesley
  • Hofherr, Alexis
  • Iancu, Daniela
  • Issler, Naomi
  • Jefferies, Craig
  • Jones, Peter
  • Johnson, Matthew
  • Kesselheim, Anne
  • Klootwijk, Enriko
  • Koettgen, Michael
  • Lewis, Wendy
  • Martos, José María
  • Mozere, Monika
  • Norman, Jill
  • Patel, Vaksha
  • Parrish, Andrew
  • Pérez-Cerdá, Celia
  • Pozo, Jesús
  • Rahman, Sofia A
  • Sebire, Neil
  • Tekman, Mehmet
  • Turnpenny, Peter D
  • Hoff, William Van't
  • Viering, Daan H H M
  • Weedon, Michael N
  • Wilson, Patricia
  • Guay-Woodford, Lisa
  • Kleta, Robert
  • Hussain, Khalid
  • Ellard, Sian
  • Bockenhauer, Detlef
Publication date
April 2017
Journal
Journal of the American Society of Nephrology

Abstract

Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecognized genetic disorder. Whole-genome linkage analysis in five informative families identified a single significant locus on chromosome 16p13.2 (logarithm of odds score 6.5). Sequencing of the coding regions of all linked genes failed to identify biallelic mutations. Instead, we found in all patients a promoter mutation (c.-167G>T) in the phosphomannomutase 2 gene (PMM2), either homozygous or in trans with PMM2 coding mutations. PMM2 encodes a key enzyme in N-glycosylation. Abnormal glycosylation has been asso...

Extracted data

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