IllnessMicrocephaly + periventricular nodulary heterotopias, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Microcephaly + periventricular nodulary heterotopias comprising 4 guideline-curated and altogether 8 curated genes according to the clinical signs

MP1226

Number of genes

8 Accredited laboratory test

Examined sequence length

18,2 kb (Core-/Core-canditate-Genes)
38,7 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ARFGEF2	5358	605371	NM_006420.3	AR
ERMARD	2037	615532	NM_018341.3	AD
FLNA	7920	300017	NM_001456.4	XL
NEDD4L	2868	606384	NM_015277.6	AD
ARF1	685	103180	NM_001024226.2	AD
DCHS1	9897	603057	NM_003737.4	AR
EML1	2448	602033	NM_004434.3	AR
MAP1B	7414	157129	NM_005909.5	AD

Informations about the disease

Clinical Comment

Brain malformation, due to abnormal neuronal migration, subset of neurons fails to migrate into the developing cerebral cortex, remains as nodules lining ventricular surface. Classical PNH: rare X-linked dominant disorder far more frequent in females with normal intelligence to borderline intellectual deficit, epilepsy of variable severity, extra-central nervous system signs, especially cardiovascular defects, coagulopathy; generally prenatal lethality in males.

Synonyms

Alias: Microcephaly combined with periventricular nodular heterotopias
Allelic: Cardiac valvular dysplasia, X-linked (FLNA)
Allelic: Congenital short bowel syndrome (FLNA)
Allelic: FG syndrome 2 (FLNA)
Allelic: Frontometaphyseal dysplasia 1 (FLNA)
Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
Allelic: Melnick-Needles syndrome (FLNA)
Allelic: Mitral valve prolapse 2 (DCHS1)
Allelic: Otopalatodigital syndrome, type I (FLNA)
Allelic: Otopalatodigital syndrome, type II (FLNA)
Allelic: Terminal osseous dysplasia (FLNA)
Band heterotopia (EML1)
Heterotopia, periventricular, 1 (FLNA)
Periventricular heterotopia with microcephaly (ARFGEF2)
Periventricular nodular heterotopia 6 (ERMARD)
Periventricular nodular heterotopia 7 (NEDD4L)
Periventricular nodular heterotopia 8 (ARF1)
Periventricular nodular heterotopia 9 (MAP1B)
Van Maldergem syndrome 1 (DCHS1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Q02

Bioinformatics and clinical interpretation

No text defined