Table 3.

Syndromes Associated with Hyperinsulinism

Gene(s) / LocusDisorder 1MOI
ADK Adenosine kinase deficiencyAR
ALG3 ALG3-CDGAR
ALG6 ALG6-CDGAR
CACNA1C CACNA1C-related disorders AD
CACNA1D PASNA syndrome (OMIM 615474)AD
CDKN1C
11p15 2		 Beckwith-Wiedemann syndrome See footnote 2.
CREBBP
EP300 		Rubinstein-Taybi syndrome AD
DIS3L2 Perlman syndrome (OMIM 267000)AR
EIF2S3 MEHMO syndrome (OMIM 300148)XL
FAH Tyrosinemia type I AR
FOXA2 Syndromic hyperinsulinismAD
GPC3 Simpson-Golabi-Behmel syndrome type 1 XL
HNF4A Fanconi renotubular syndrome (p.Arg76Trp)AD
HRAS HRAS-related Costello syndrome AD
INSR INSR-related severe insulin resistance syndrome AR
KCNQ1 KCNQ1-related long QT syndromeAD
KDM6A
KMT2D 		Kabuki syndrome AD
XL
MEN1 Multiple endocrine neoplasia type 1 AD
MPI MPI-CDGAR
NSD1 Sotos syndrome AD
PGM1 PGM1-CDGAR
PHOX2B Congenital central hypoventilation syndrome AD
PMM2 PMM2-CDGAR
TRMT10A Syndromic hyperinsulinism (OMIM 616033)AR
YARS1 YARS1-related disorder (OMIM 619418)AR
9p249p24 deletion syndrome 3AD

AD = autosomal dominant; AR = autosomal recessive; CDG = congenital disorder of glycosylation; MOI = mode of inheritance; XL = X-linked

1.
2.

Beckwith-Wiedemann syndrome (BWS) is associated with abnormal expression of imprinted genes in the BWS critical region. Abnormal expression of imprinted genes can be caused by a constitutional epigenetic or genomic alteration leading to an abnormal methylation pattern at 11p15.5 known to be associated with BWS; a 11p15.5 copy number variant; or a heterozygous maternally inherited CDKN1C pathogenic variant. Reliable recurrence risk assessment requires identification of the genetic mechanism in the proband that underlies the abnormal expression of imprinted genes in the BWS critical region.

3.

From: Nonsyndromic Genetic Hyperinsulinism Overview

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