Klinische FragestellungAutismus I, Differentialdiagnose

1. array, 2. FRAX, 3. Gene: MECP2, PTEN empfohlen ACMG guidelines NGS + [Sanger]

Autismus Spektrum Erkrankungen (ASD) sind Entwicklungsstörungen mit besonderen sozialen, kommunikativen und Verhaltensproblemen. Genetische Veränderungen stellen neben anderen meist unbekannten Ursachen Risikofaktoren für die Entwicklung von ASD dar. ASD zeigen sich in frühester Kindheit, viermal häufiger bei Knaben als Mädchen. Die Vererbung ist in aller Regel multifaktoriell, d.h. mehrere Gene interagieren in komplexer Art und Weise miteinander sowie mit Umwelteinflüssen. Unauffällige genetische Befunde sind eher die Regel.

Referenz: https://www.awmf.org/leitlinien/detail/ll/028-018.html

• Autism spectrum disorder, ASD
• Allelic: Cardiac arrhythmia, ankyrin-B-related (ANK2)
• Allelic: Episodic ataxia, type 9 (SCN2A)
• Allelic: Long QT syndrome 4 (ANK2)
• Allelic: Pseudohypoaldosteronism, type IIE (CUL3)
• Allelic: Schizophrenia 15 (SJANK3)
• Allelic: Seizures, benign familial infantile, 3 (SCN2A)
• Allelic: VATER association, macrocephaly, ventriculomegaly; Susceptibility to tumor types (PTEN)
• Adenylosuccinase deficiency (ADSL)
• Angelman syndrome (UBE3A)
• Autism susceptibility, XL 3 (MECP2)
• Autism, susceptibility to, 18 (CHD8)
• Bainbridge-Ropers syndrome (ASXL§)
• Coffin-Siris syndrome 1 (ARID1B)
• Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1 (CNTNAP2)
• Developmental + epileptic encephalopathy 11 (SCN2A)
• Developmental + epileptic encephalopathy 27 (GRIN2B)
• Developmental + epileptic encephalopathy 94 (CHD2)
• Down syndrome + congenital heart disease [OMIM] (DSCAM)
• Encephalopathy, neonatal severe; Angelman syndrome (MECP2)
• Epilepsy, familial temporal lobe, 7 (RELN)
• Fragile X syndrome (FMR1_CCG)
• Helsmoortel-Van der Aa syndrome; Mental retardation AD, 28 (ADNP)
• Intellectual developmental disorder with autism + speech delay (TBR1)
• Intellectual developmental disorder, AD 50, with behavioral abnormalities (NAA15)
• Intellectual developmental disorder, AD 6, with/-out seizures (GRIN2B)
• Intellectual developmental disorder, AD 64 (ZNF292)
• Intellectual developmental disorder, XL 72 (RAB39B)
• Intellectual developmental disorder, XL syndromic 14 (UPF3)
• Intellectual developmental disorder, XL syndromic, Lubs type (MECP2)
• Intellectual developmental disorder, XL, syndromic 13 (MECP2)
• Lissencephaly 2, Norman-Roberts type (RELN)
• Lujan-Fryns syndrome (MED12)
• Macrocephaly/autism syndrome (PTEN)
• Mental retardation with language impairment + autistic features, MRLIAF (FOXP1)
• Mental retardation, AD 23 (SETD5)
• Mental retardation, AD 26; Syndromic intellectual disability (AUTS2)
• Mental retardation, AD 39 (MYT1L)
• Mental retardation, AD 49 (TRIP12)
• Mental retardation, AD 5 (SYNGAP1)
• Mental retardation, AD 51 (KMT5B)
• Mental retardation, AD 52 (ASH1L)
• Mental retardation, AD 7 (DYRK1A)
• Neurodevelopmental disorder with/-out autism or seizures (CUL3)
• Ohdo syndrome, XL (MED12)
• Opitz-Kaveggia syndrome (MED12)
• Phelan-McDermid syndrome; Rett syndrome-like phenotype (SHANK3)
• Phenylketonuria (PAH)
• Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
• Pitt-Hopkins-like syndrome 2; Schizophrenia, susceptibility to, 17; Autism (NRXN1)
• Rett syndrome (MECP2)
• Rett syndrome, atypical (MECP2)
• Rett syndrome, preserved speech variant (MECP2)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Tourette syndrome; Epileptic encephalopathy, childhood-onset (CHD2)
• Tuberous sclerosis-1 + -2 (TSC1, TSC2)
• Waisman syndrome (RAB39B)
• White-Sutton syndrome (POGZ)
• Wiedemann-Steiner syndrome (KMT2A)