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

From: Congenital imprinting disorders: EUCID.net - 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, EUCID.net has decided to use the disorders names listed on the left (see www.imprinting-disorders.eu). IUGR, intrauterine growth retardation; PNGR, postnatal growth retardation. aChromosomes. bCase [27] carries both upd(7)mat and an TS14 epimutations.
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Clinical Epigenetics

ISSN: 1868-7083

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