IllnessPrader-Willi syndrome / Angelman syndrome

Summary

Short information

Curated methylation analysis demonstrating an abnormal parent-specific imprinting pattern within the Prader-Willi critical region on chromosome 15 upon supected Prader-Willi or Angelman syndrome

PY1111

Number of genes

2 Accredited laboratory test

Examined sequence length

3,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

step methylation analysis

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
SNRPN	723	182279	NM_003097.6	AD
UBE3A	2559	601623	NM_130838.4	AD

Informations about the disease

Clinical Comment

Hypothalamic-pituitary dysfunction with severe hypotonia, feeding deficits during neonatal period, then excessive weight gain with hyperphagia, risk of severe obesity in child-/adulthood, learning difficulties, deficits of social skills, behavioral or severe psychiatric problems

Diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, small hands + feet

~70% PWS patients have deletion 15q11.2-q13

1% PWS patients chromosomal rearrangement with deletion in 15q11.2-q13

<1% PWS patients chromosomal rearrangements breaking in 15q11.2-q13

Synonyms

Alias: Happy puppet syndrome (UBE3A)
Alias: Prader-Labhart-Willi syndrome
Alias: Willi-Prader syndrome
Angelman syndrome (UBE3A)
Prader-Willi syndrome ([SNURF-]SNRPN)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined