IllnessProgeria syndromes, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Progeria syndromes containing 13 core candidate genes and altogether 16 curated genes according to the clinical signs

PP5647

Number of genes

14 Accredited laboratory test

Examined sequence length

25,7 kb (Core-/Core-canditate-Genes)
27,6 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
AGPAT2	837	603100	NM_006412.4	AR
B4GALT7	984	604327	NM_007255.3	AR
BANF1	270	603811	NM_001143985.1	AR
BSCL2	1197	606158	NM_032667.6	AR
GORAB	1185	607983	NM_152281.3	AR
LMNA	1995	150330	NM_170707.4	AD
PDGFRB	3321	173410	NM_002609.4	AD
POLD1	3324	174761	NM_002691.4	AD
POLR3A	4173	614258	NM_007055.4	AR
PYCR1	960	179035	NM_006907.4	AR
SLC25A24	1650	608744	NM_013386.5	AD
WRN	4299	604611	NM_000553.6	AR
ZMPSTE24	1428	606480	NM_005857.5	AR
DMPK	1920	605377	NM_001081563.2	AD

Informations about the disease

Clinical Comment

ORPHA:740 Hutchinson-Gilford progeria syndrome

ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome

ORPHA:280576 Nestor-Guillermo progeria syndrome

ORPHA:2959 Progeria-short stature-pigmented nevi syndrome

ORPHA:2985 Pseudoprogeria syndrome

ORPHA:902 Werner syndrome

Synonyms

Allelic: Agammaglobulinemia 7, AR (PIK3R1)
Allelic: Basal ganglia calcification, idiopathic, 4 (PDGFRB)
Allelic: Immunodeficiency 36 (PIK3R1)
Allelic: Neuropathy, distal hereditary motor, type VA (BSCL2)
Allelic: Restrictive dermopathy, lethal (LMNA, ZMPSTE24)
Cutis laxa, autosomal recessive, type IIB + IIIB (PYCR1)
Ehlers-Danlos syndrome, spondylodysplastic type, 1 (B4GALT7)
Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
Fontaine progeroid syndrome (SLC25A24)
Geroderma osteodysplasticum (GORAB)
Hutchinson-Gilford progeria (LMNA)
Kosaki overgrowth syndrome (PDGFRB)
Leukodystrophy, hypomyelinating, 7, oligodontia and/or hypogonadotropic hypogonadism (POLR3A)
Lipodystrophy, congenital generalized, type 1 (AGPAT2)
Lipodystrophy, congenital generalized, type 2 (BSCL2)
Lipodystrophy, familial partial, type 2 (LMNA)
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (POLD1)
Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
Myotonic dystrophy 1 (DMPK CTG)
Myotonic dystrophy 2 (CNBP)
Nestor-Guillermo progeria syndrome (BANF1)
Premature aging syndrome, Penttinen type (PDGFRB)
SHORT s.: Stature, Hyperextens. joints/hernia, Ocular depress., Rieger anom., Teething late (PIK3R1)
Werner syndrome (WRN)
Wiedemann-Rautenstrauch syndrome (POLR3A)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined