Klinische FragestellungLissenzephalie, Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 63 Genen, 19 Gene davon sind Leitlinien-kuratiert, zur umfassenden Untersuchung von praktisch allen bekannten genetisch bedingten Störungen der Lissenzephalie; Mutationen in 13 "core"- und "core candidate"-Gene erfassen die wichtigsten bzw. häufigsten Mutationen.

LP0570

Anzahl Gene

51 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

42,4 kb (Core-/Core-canditate-Gene)
147,7 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Material

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
ARX	1689	300382	NM_139058.3	XL
CDK5	783	123831	NM_001164410.3	AR
CRPPA	1356	614631	NM_001101426.4	AR
DCX	1083	300121	NM_178153.3	XL
DYNC1H1	13941	600112	NM_001376.5	AD
FLNA	7920	300017	NM_001456.4	XL
KATNB1	1968	602703	NM_005886.3	AR
KIF2A	2235	602591	NM_001098511.3	AD
NDE1	1008	609449	NM_001143979.2	AR
PAFAH1B1	1233	601545	NM_000430.4	AD
PIK3CA	3207	171834	NM_006218.4	AD
TUBA1A	1356	602529	NM_006009.4	AD
WDR62	4572	613583	NM_001083961.2	AR
ACTB	1128	102630	NM_001101.5	AD
ACTG1	1128	102560	NM_001614.5	AD
ADGRG1	2064	604110	NM_005682.7	AR
ARFGEF2	5358	605371	NM_006420.3	AR
B3GALNT2	1503	610194	NM_152490.5	AR
B4GAT1	1248	605517	NM_006876.3	AR
CASK	2766	300172	NM_003688.3	XL
CCND2	870	123833	NM_001759.4	AD
CEP85L	2418	618865	NM_001042475.3	AD
CRADD	600	603454	NM_003805.5	AR
CTNNA2	2583	114025	NM_001164883.2	AR
DAG1	2688	128239	NM_004393.6	AR
FKRP	1488	606596	NM_024301.5	AR
FKTN	1386	607440	NM_001079802.2	AR
IER3IP1	249	609382	NM_016097.5	AR
KIF5C	2874	604593	NM_004522.3	AD
LAMB1	5361	150240	NM_002291.3	AR
LAMC3	4728	604349	NM_006059.4	AR
MACF1	16293	608271	NM_012090.5	AD
NEDD4L	2868	606384	NM_015277.6	AD
PIDD1	2894	605247	NM_145886.4	AR
PIK3R2	2187	603157	NM_005027.4	AD
POMGNT1	1983	606822	NM_017739.4	AR
POMGNT2	1743	614828	NM_032806.6	AR
POMK	1053	615247	NM_032237.5	AR
POMT1	2244	607423	NM_007171.4	AR
POMT2	2253	607439	NM_013382.7	AR
PQBP1	798	300463	NM_005710.2	XLR
RELN	10383	600514	NM_005045.4	AR
RTTN	6681	610436	NM_173630.4	AR
TMTC3	2745	617218	NM_181783.4	AR
TUBA8	1350	605742	NM_018943.3	AR
TUBB	1335	191130	NM_178014.4	AD
TUBB2A	1338	615101	NM_001069.3	AD
TUBB2B	1338	612850	NM_178012.5	AD
TUBB3	1353	602661	NM_006086.4	AD
TUBG1	1356	191135	NM_001070.5	AD
VLDLR	2622	192977	NM_003383.5	AR

Infos zur Erkrankung

Klinischer Kommentar

Abnormal glatte Oberfläche der Großhirnrinde: Typ-1-Lissenzephalie + Kopfsteinpflasterkomplex (Typ 2): wenige Gyri + Sulci, von vollständiger Agyria bis zur subkortikalen Band-Heterotopie

Synonyme

Allelic: Epileptic encephalopathy, early infantile, 1 (ARX)
Allelic: Hydranencephaly with abnormal genitalia (ARX)
Allelic: Mental retardation, XL 29, 32, 33, 38, 43, 52, 54, 76, 87 (ARX)
Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (POMT1)
Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (GMPPB)
Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 (POMT2)
Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (POMGNT1)
Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (FKRP)
Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 (CRPPA)
Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 (POMGNT2)
Allelic: Partington syndrome (ARX)
Allelic: Proud syndrome (ARX)
Allelic: Retinitis pigmentosa 76 (POMGNT1)
Allelic: Roifman syndrome (RNU4ATAC)
Allelic: Subcortical laminal heterotopia, XL (DCX)
Ciliary dyskinesia, primary, 47, + lissencephaly (TP73)
Cortical dysplasia, complex, with other brain malformations 10 (APC2
Intellectual developmental disorder, AR 74 (APC2)
Lissencephaly 1 (PAFAH1B1)
Lissencephaly 10 (CEP85L)
Lissencephaly 2, Norman-Roberts type (RELN)
Lissencephaly 3 (TUBA1A)
Lissencephaly 4 [with microcephaly] (NDE1)
Lissencephaly 5 (LAMB1)
Lissencephaly 6, with microcephaly (KATNB1)
Lissencephaly 7 with cerebellar hypoplasia (CDK5)
Lissencephaly 8 (TMTC3)
Lissencephaly 9 with complex brainstem malformation (MACF1)
Lissencephaly [panelapp] (PIDD1)
Lissencephaly, XL (DCX)
Lissencephaly, XL 2 (ARX)
Lowry-Wood syndrome (RNU4ATAC)
Mega-corpus-callosum syndrome with cerebellar hypoplasia + cortical malformations (MAST1)
Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
Microcephaly 17, primary, AR (CIT)
Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 1 (POMT1)
Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 10 (RXYLT1)
Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 14 (GMPPB)
Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 2 (POMT2)
Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 3 (POMGNT1)
Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 5 (FKRP)
Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 6 (LARGE1)
Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 7 (CRPPA)
Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 8 (POMGNT2)
Muscular dystrophy-dystroglycanopathy, congenital with mental retardation, type B, 1 (POMT1)
Muscular dystrophy-dystroglycanopathy, congenital with mental retardation, type B, 14 (GMPPB)
Muscular dystrophy-dystroglycanopathy, congenital with mental retardation, type B, 2 (POMT2)
Muscular dystrophy-dystroglycanopathy, congenital with mental retardation, type B, 3 (POMGNT1)
Muscular dystrophy-dystroglycanopathy, congenital with mental retardation, type B, 6 (LARGE1)
Muscular dystrophy-dystroglycanopathy, congenital with/-out mental retardation, type B, 5 (FKRP)
Pachygyria, microcephaly, developmental delay, dysmorphic facies +/- seizures (TUGCP2)
Polymicrodyria, lissencephaly [genereviews] (EOMES)
Spinocerebellar ataxia 37 (DAB1)
Subcortical laminar heterotopia (PAFAH1B1)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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