IllnessPrenatal lissencephaly, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Prenatal lissencephaly containing 20 core candidate genes and altogether 43 curated genes according to the clinical signs

PP0007

Number of genes

27 Accredited laboratory test

Examined sequence length

60,9 kb (Core-/Core-canditate-Genes)
73,7 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

Amniotic fluid (after amnocentesis)
Chorionic villus
Umbilical cord blood

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ACTB	1128	102630	NM_001101.5	AD
ACTG1	1128	102560	NM_001614.5	AD
B3GALNT2	1503	610194	NM_152490.5	AR
DCX	1083	300121	NM_178153.3	XL
FKRP	1488	606596	NM_024301.5	AR
FKTN	1386	607440	NM_001079802.2	AR
KATNB1	1968	602703	NM_005886.3	AR
LAMB1	5361	150240	NM_002291.3	AR
MACF1	16293	608271	NM_012090.5	AD
NDE1	1008	609449	NM_001143979.2	AR
PAFAH1B1	1233	601545	NM_000430.4	AD
POMGNT1	1983	606822	NM_017739.4	AR
POMGNT2	1743	614828	NM_032806.6	AR
POMT1	2244	607423	NM_007171.4	AR
POMT2	2253	607439	NM_013382.7	AR
RELN	10383	600514	NM_005045.4	AR
TMTC3	2745	617218	NM_181783.4	AR
TUBA1A	1356	602529	NM_006009.4	AD
WDR62	4572	613583	NM_001083961.2	AR
ATP6V0A2	2571	611716	NM_012463.4	AR
B4GAT1	1248	605517	NM_006876.3	AR
CDK5	783	123831	NM_001164410.3	AR
CEP85L	2418	618865	NM_001042475.3	AD
CRADD	600	603454	NM_003805.5	AR
CRPPA	1356	614631	NM_001101426.4	AR
GMPPB	1164	615320	NM_013334.4	AR
VLDLR	2622	192977	NM_003383.5	AR

Informations about the disease

Clinical Comment

Parts/entire surface of the brain appear smooth lacking folds (gyri), grooves (sulci). Suspicion could be raised >24 weeks’ gestation. Parieto-occipital + Sylvian fissures appear flat, subarachnoid space is usually increased. In all cases of apparently isolated brain abnormalities detailed follow-up at ~26 weeks should exclude lissencephaly. Type I: agyria with lack of neuronal migration. The cortex is smooth and thick. Type II: extensive, anarchic migration with lack of layering. The cortex is described as cobblestone.

Synonyms

Allelic: Cardiomyopathy, dilated, 1X (FKTP)
Allelic: Cutis laxa, autosomal recessive, type IIA (ATP6V0A2)
Allelic: Deafness, AD 20/26 (ACTG1)
Allelic: Dystonia, juvenile-onset (ACTB)
Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
Allelic: Hydranencephaly with abnormal genitalia (ARX)
Allelic: Mental retardation, XL 29 + others (ARX)
Allelic: Microhydranencephaly (NDE1)
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, 4 (FKTP)
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: Retinitis pigmentosa 76 (POMGNT1)
Allelic: Wrinkly skin syndrome (ATP6V0A2)
Baraitser-Winter syndrome 1 (ACTB)
Baraitser-Winter syndrome 2 (ACTG1)
Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
Epileptic encephalopathy, early infantile, 1 (ARX)
Intellectual developmental disorder, AR 75, neuropsych. features + variant lissencephaly (PIDD1)
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, XL (DCX)
Lissencephaly, XL 2 (ARX)
Mental retardation, AR 34, with variant lissencephaly (CRADD)
Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 1 (POMT1))
Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 11 (B3GALNT2)
Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 13 (B4GAT1)
Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 14 (GMPPB)
Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 2 (POMT2)
Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 3 (POMGNT1)
Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 4 (FKTP)
Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 5 (FKRP)
Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 6 (LARGE1)
Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 7 (CRPPA)
Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 8 (POMGNT2)
Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 1 (POMT1)
Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 14 (GMPPB)
Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 2 (POMT2)
Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 3 (POMGNT1)
Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 6 (LARGE1)
Muscular dystrophy-dystroglycanopathy (cong. with/-out mental retardation), type B, 5 (FKRP)
Muscular dystrophy-dystroglycanopathy (cong. without mental retardation), type B, 4 (FKTP)
Proud syndrome (ARX)
Subcortical laminal heterotopia, XL (DCX)
Subcortical laminar heterotopia (PAFAH1B1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined