IllnessKraniosynostose, häufig mutierte Gene; Differentialdiagnose

Summary

Short information

A curated panel containing 7 frequently mutated genes for the analysis of suspected inherited craniosynostosis

KP1840

Number of loci

Loci type	Count
Gen	8

Accredited laboratory test

Examined sequence length

12,8 kb (Core-/Core-canditate-Genes)
14,3 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Loci panel

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
EFNB1	1041	300035	NM_004429.5	XL
ERF	1647	611888	NM_006494.4	AD
FGFR1	2469	136350	NM_023110.3	AD
FGFR2	2466	176943	NM_000141.5	AD
FGFR3	2421	134934	NM_000142.5	AD
TCF12	2121	600480	NM_207036.2	AD
TWIST1	609	601622	NM_000474.4	AD
SMAD6	1491	602931	NM_005585.5	AD, digenisch

Informations about the disease

Clinical Comment

Premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with variable presentation

Synonyms

Alias: Fontanelle - craniosynostosis
Alias: Koronarnaht-Synostose
Alias: Plagiocephaly, scaphocephaly
Alias: Premature closure of sutures
Alias: Synostosis
Allelic: Achondroplasia (FGFR3)
Allelic: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
Allelic: Aortic valve disease 2 (SMAD6)
Allelic: Apert syndrome (FGFR2)
Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
Allelic: Bent bone dysplasia syndrome (FGFR2)
Allelic: Bladder cancer, somatic (FGFR3)
Allelic: CATSHL syndrome (FGFR3)
Allelic: Chitayat syndrome (ERF)
Allelic: Colorectal cancer, somatic (FGFR3)
Allelic: Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
Allelic: Crouzon syndrome (FGFR2)
Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
Allelic: Encephalocraniocutaneous lipomatosis, somatic mosaic (FGFR1)
Allelic: Gastric cancer, somatic (FGFR2)
Allelic: Hartsfield syndrome (FGFR1)
Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
Allelic: Lacrimoauriculodentodigital [LADD] syndrome (FGFR2, FGFR3)
Allelic: Muenke syndrome (FGFR3)
Allelic: Naevus, epidermal, somatic (FGFR3)
Allelic: Osteoglophonic dysplasia (FGFR1)
Allelic: Radioulnar synostosis, nonsyndromic (SMAD6)
Allelic: Scaphocephaly, maxillary retrusion, and mental retardation (FGFR2)
Allelic: Spermatocytic seminoma, somatic (FGFR3)
Allelic: Sweeney-Cox syndrome (TWIST1)
Allelic: Thanatophoric dysplasia, type I, II (FGFR3)
Craniofrontonasal dysplasia (EFNB1)
Craniosynostosis 1 (TWIST1)
Craniosynostosis 3 (TCF12)
Craniosynostosis 4 (ERF)
Craniosynostosis 7, susceptibility to (SMAD6)
Craniosynostosis, nonspecific (FGFR2)
Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome (FGFR1, FGFR2)
Jackson-Weiss syndrome (FGFR1, FGFR2 [FGFR3])
Pfeiffer syndome (FGFR1, FGFR2)
Robinow-Sorauf syndrome (TWIST1)
Saethre-Chotzen syndrome [Acrocephalosyndactyly, type III] (FGFR2)
Scaphocephaly and Axenfeld-Rieger anomaly (FGFR2)

Heredity, heredity patterns etc.

AD
XL
digenisch

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined