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Table 1 Overview on the clinical and molecular characteristics of the currently known eight IDslocalization

From: Congenital imprinting disorders: - a network to decipher their aetiology and to improve the diagnostic and clinical care

Imprinting disorder Alternative name/acronym Frequency OMIM Chromosomes a /imprinted regions Type of mutation/epimutation MLID Detection rate Main clinical features
Transient neonatal diabetes mellitus TNDM 1/300,000 601410 6q24a: ZAC1/HYMA1 upd(6)pat   40% IUGR, transient diabetes, hyperglycemia without ketoacidosis, macroglossia, omphalocele
Paternal duplications   40%
Methylation defects Approximately 50% 20%
Silver-Russell syndrome Russell-Silver syndrome, SRS, RSS 1/75,000-1/100,000 180860 7a upd(7)mat One caseb Approximately10% IUGR/PNGR, rel. macrocephaly, hemihypotrophy, triangular face, feeding difficulties
11p15a: upd(11p15)mat   Single cases
  Maternal duplication   <1%
IGF2/H19 Hypomethylation 7% to 10% >38%
CDKN1C Point mutations   One family reported
Beckwith-Wiedemann syndrome Wiedemann-Beckwith syndrome, EMG syndrome, BWS 1/15,000 130650 11p15a: upd(11p15)pat   Approximately 20% Prenatal and postnatal overgrowth, organomegaly, macroglossia, omphalocele, neonatal hypoglycemia, hemihypertrophy, increased tumour risk
  Chromosomal aberrations   2% to 4%
ICR1: IGF2/H19; Hypermethylation   5% to 10%
ICR2:KCNQ1 Hypomethylation Approximately 25% 40% to 50%
CDKN1C Point mutations   5% (sporadic) 40% to 50% (families)
Kagami-Ogata syndrome KOS14, upd(14)pat syndrome Not known 608149 14q32a: DLK1/GTL2 upd(14)pat Not yet reported ? IUGR, polyhydramnion, abdominal and thoracal wall defects, bell-shaped thorax, coat-hanger ribs
Aberrant methylation
Temple syndrome TS14, upd(14)mat syndrome Not known   14q32a: DLK1/GTL2 upd(14)mat One caseb ? IUGR/PNGR, Hypotonia, feeding difficulties in infancy, truncal obesity, scoliosis, precocious puberty
Paternal deletion
Aberrant methylation
Prader-Willi syndrome Prader-Labhart-Willi-syndrome, PWS 1/25,000 176270 15q11-q13a Paternal deletion One case with PWS and BWS features 70% PNGR, mental retardation, neonatal hypotonia, hypogenitalism, hypopigmentation, obesity/hyperphagia
-1/10,000 upd(15)mat <30%
Aberrant methylation Approximately 1%
Angelman syndrome Happy puppet syndrome, AS 1/20,000 105830 15q11-q13a: Maternal deletion Not yet reported 70% Mental retardation, microcephaly, no speech, unmotivated laughing, ataxia, seizures, scoliosis
-1/12,000   upd(15)pat 1% to 3%
  Aberrant methylation Approximately 4%
UBE3A Point mutations 10% to 15%
Pseudohypo-parathyroidism PHP1B, PHP1C and PHP1A Not known 603233 20q13a Maternally inherited deletions   Not yet reported Resistance to PTH and other hormones
612462 GNAS Causing aberrant methylation   Albright hereditary osteodystrophy
103580   Isolated epimutations 12.5% Subcutaneous ossifications
   upd(20)pat   Feeding behaviour anomalies
   Maternal and paternal heterozygous loss of function mutations in the coding sequence of GNAS   Abnormal growth patterns
  1. As listed in the second column, for several IDs, different names have been proposed. To reach a consensus on a common nomenclature of IDs, has decided to use the disorders names listed on the left (see IUGR, intrauterine growth retardation; PNGR, postnatal growth retardation. aChromosomes. bCase [27] carries both upd(7)mat and an TS14 epimutations.