Klinische FragestellungAnophthalmie, Mikrophthalmie; Differentialdiagnose
Zusammenfassung
Umfassendes differentialdiagnostisches panel für Anophthalmie/Mikrophthalmie mit 17 bzw. 65 kuratierten Genen je nach klinischer Verdachtsdiagnose
156,9 kb (Erweitertes Panel: inkl. additional genes)
- EDTA-Blut (3-5 ml)
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
ALDH1A3 | 1539 | NM_000693.4 | AR | |
BCOR | 5166 | NM_017745.6 | XL | |
BMP4 | 1227 | NM_001202.6 | AD | |
FOXE3 | 960 | NM_012186.3 | AR | |
GDF3 | 1095 | NM_020634.3 | AD | |
GDF6 | 1368 | NM_001001557.4 | AD | |
HCCS | 807 | NM_005333.5 | XL | |
MFRP | 1740 | NM_031433.4 | AR | |
OTX2 | 870 | NM_172337.3 | AD | |
PAX6 | 1269 | NM_000280.5 | AD | |
RAX | 1041 | NM_013435.3 | AR | |
SHH | 1389 | NM_000193.4 | AD | |
SIX6 | 741 | NM_007374.3 | AR | |
SMOC1 | 1308 | NM_001034852.3 | AR | |
SOX2 | 954 | NM_003106.4 | AD | |
STRA6 | 2004 | NM_001142617.2 | AR | |
VSX2 | 1086 | NM_182894.3 | AR | |
ABCB6 | 2529 | NM_005689.4 | AD | |
ATOH7 | 459 | NM_145178.4 | AR | |
BMP7 | 1296 | NM_001719.3 | AD | |
C12orf57 | 381 | NM_138425.4 | AR | |
CHD7 | 8994 | NM_017780.4 | AD | |
COL4A1 | 5010 | NM_001845.6 | AD, Mult | |
CRYBA4 | 591 | NM_001886.3 | AD | |
FAT1 | 13767 | NM_005245.4 | AR | |
FOXC1 | 1662 | NM_001453.3 | AD | |
FRAS1 | 12039 | NM_025074.7 | AR | |
FREM1 | 6540 | NM_144966.7 | AR | |
FREM2 | 9510 | NM_207361.6 | AR | |
GRIP1 | 3231 | NM_021150.4 | AR | |
HESX1 | 558 | NM_003865.3 | AD, AR | |
HMGB3 | 603 | NM_005342.4 | XL | |
KMT2D | 16614 | NM_003482.4 | AD | |
MAB21L2 | 1080 | NM_006439.5 | AD, AR | |
MYRF | 3506 | NM_001127392.3 | AD | |
NAA10 | 663 | NM_001256119.2 | XL | |
NHS | 4425 | NM_001136024.4 | XL | |
PAX2 | 1254 | NM_003987.5 | AD | |
PITX2 | 816 | NM_153427.2 | AD | |
PORCN | 1386 | NM_203475.3 | XL | |
PQBP1 | 798 | NM_005710.2 | XLR | |
PRSS56 | 1812 | NM_001195129.2 | AR | |
PXDN | 4440 | NM_012293.3 | AR | |
RAB18 | 621 | NM_021252.5 | AR | |
RAB3GAP1 | 2946 | NM_012233.3 | AR | |
RAB3GAP2 | 4182 | NM_012414.4 | AR | |
RARB | 1347 | NM_000965.5 | AD, AR | |
SALL2 | 3024 | NM_005407.3 | AR | |
SMO | 2364 | NM_005631.5 | AD | |
TBC1D20 | 1212 | NM_144628.4 | AR | |
TENM3 | 8100 | NM_001080477.4 | AR | |
TFAP2A | 1296 | NM_001032280.3 | AD | |
TMEM98 | 681 | NM_001033504.2 | AD | |
VAX1 | 1005 | NM_001112704.2 | AR | |
YAP1 | 1515 | NM_001130145.3 | AD |
Infos zur Erkrankung
Bei Mikrophthalmie/Anophthalmie sind ein oder beide Augäpfel besonders klein oder fehlen ganz. Mikrophthalmie kann, muss aber nicht zu einem erheblichen Sehverlust führen. Die Patienten können auch ein- oder beidseitige Kolobome haben, die ebenfalls das Sehvermögen beeinträchtigen. Darüber hinaus können Betroffene auch andere Augenanomalien aufweisen, darunter Katarakt, verengte Lidspalten und Mikrokornea. Bei 30-50 % der Betroffenen ist die Mikrophthalmie syndromal bedingt. Mikrophthalmie kann durch Veränderungen in vielen Genen verursacht werden, die an der frühen Entwicklung des Auges beteiligt sind und von denen die meisten noch nicht identifiziert wurden. Die meisten genetischen Veränderungen, die mit isoliertem Mikrophthalmus in Verbindung gebracht werden, sind nur bei sehr wenigen Patienten identifiziert worden. Darüber hinaus kann Mikrophthalmie auch durch Umweltfaktoren verursacht sein, z.B. durch Mangel an bestimmten Vitaminen während der Schwangerschaft, Strahlung, Infektionen oder Exposition gegenüber Teratogenen. Isolierter Mikrophthalmus wird mitunter autosomal rezessiv vererbt, manchmal mit verminderter Penetranz; in syndromalen Fällen kann Mikrophthalmie entsprechend dem Erbmuster für diese Erkrankung gehäuft auftreten. Häufig wird Mikrophthalmie gar nicht vererbt bei lediglich einem Betroffenen in der Familie. Daher schließt ein negatives molekulargenetisches Ergebnis die klinische Diagnose nicht aus.
Beispielhafte Referenzen: https://www.ncbi.nlm.nih.gov/books/NBK1300/
https://www.ncbi.nlm.nih.gov/books/NBK7041/
https://www.ncbi.nlm.nih.gov/books/NBK1728/
- Alias: Anophthalmia-microphthalmia syndrome
- Alias: Anophthalmos, microphthalmos
- Alias: Microphthalmia-anophthalmia-coloboma
- Allelic: Aniridia (PAX6)
- Allelic: Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
- Allelic: Basal cell nevus syndrome (PTCH1)
- Allelic: Bifid nose with/-out anorectal + renal anomalies (FREM1)
- Allelic: CHARGE [Coloboma, Heart anom., choanal Atresia, Retard., Genital/Ear anom.] syndrome (CHD7)
- Allelic: Cardiac-urogenital syndrome (MYRF)
- Allelic: Cataract 34, multiple type (FOXE3)
- Allelic: Cataract 40, XL (NHS)
- Allelic: Cataract with late-onset corneal dystrophy (PAX6)
- Allelic: Coloboma of optic nerve (PAX6)
- Allelic: Coloboma, ocular (PAX6)
- Allelic: Encephalitis/encephalopathy, mild, reversible myelin vacuolization (MYRF)
- Allelic: Facioscapulohumeral muscular dystrophy 2, digenic (SMCHD1)
- Allelic: Foveal hypoplasia 1 (PAX6)
- Allelic: Glomerulosclerosis, focal segmental, 7 (PAX2)
- Allelic: Growth hormone deficiency with pituitary anomalies (HESX1)
- Allelic: Holoprosencephaly 3 (SHH)
- Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
- Allelic: Keratitis (PAX6)
- Allelic: Klippel-Feil syndrome 1, AD (GDF6)
- Allelic: Klippel-Feil syndrome 3, AD (GDF3)
- Allelic: Leber congenital amaurosis 17 (GDF6)
- Allelic: Linear skin defects with multiple congenital anomalies 1 (HCCS)
- Allelic: Morning glory disc anomaly (PAX6)
- Allelic: Multiple synostoses syndrome 4 (GDF6)
- Allelic: Nance-Horan [cataract-dental] syndrome (NHS)
- Allelic: Ogden syndrome [growth failure, delayed psychomotor development, dysmorphisms] (NAA10)
- Allelic: Optic disc anomalies with retinal and/or macular dystrophy (SIX6)
- Allelic: Optic nerve hypoplasia (PAX6)
- Allelic: Pallister-Hall-like syndrome (SMO)
- Allelic: Persistent hyperplastic primary vitreous, AR (ATOH7)
- Allelic: Pituitary hormone deficiency, combined, 5 (HESX1)
- Allelic: Pituitary hormone deficiency, combined, 6 (OTX2)
- Allelic: Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
- Allelic: Ring dermoid of cornea (PITX2)
- Allelic: Schizencephaly (SHH)
- Allelic: Single median maxillary central incisor (SHH)
- Allelic: Temtamy syndrome [Ment. retard., craniofacial dysmorph., coloboma] (C13orf57)
- Allelic: Trigonocephaly 2 (FREM1)
- Anophthalmia (PAX6)
- Anophthalmia, microphthalmia (RAX, SIX6)
- Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
- Anterior segment dysgenesis 3, multiple subtypes (FOXC1)
- Anterior segment dysgenesis 4 (PITX2)
- Anterior segment dysgenesis 5, multiple subtypes (PAX6)
- Anterior segment dysgenesis 7, with sclerocornea (PXDN)
- Axenfeld-Rieger syndrome, type 1 (PITX2)
- Axenfeld-Rieger syndrome, type 3 (FOXC1)
- BMP4-Related Syndromic Microphthalmia (BMP4)
- Bilateral microphthalmia, short stature + facial dysmorphism [panelapp] (OLFM2)
- Bosma arhinia microphthalmia syndrome (SMCHD1)
- Branchiooculofacial syndrome (TFAP2A)
- Cataract 9, multiple types (CRYAA)
- Cerebrooculofacioskeletal syndrome 4 (ERCC1)
- Coloboma, ocular, AR (SALL2)
- Coloboma, ocular, with/-out hearing impairment, cleft lip/palate, mental retardation (YAP1)
- Colobomatous microphthalmia [panelapp] (FAT1)
- Curry-Jones syndrome, somatic mosaic (SMO)
- Focal dermal hypoplasia (PORCN)
- Fraser syndrome 3 [cryptophthalmus + other malformations] (GRIP1)
- Fraser syndrome [cryptophthalmus + other malformations] (FRAS1)
- Holoprosencephaly 7 (PTCH1)
- Isolated Microphthalmia (MFRP)
- Joubert syndrome 22 (PDE6D)
- Kabuki syndrome 1 (KMT2D)
- Manitoba oculotrichoanal syndrome (FREM1)
- Martsolf [cataract-mental retardation-hypogonadism] syndrome (RAB3GAP2)
- Microphthalmia with cataract 2 (SIX6)
- Microphthalmia with coloboma 3 (VSX2)
- Microphthalmia with coloboma 5 (SHH)
- Microphthalmia with coloboma 6 (GDF3)
- Microphthalmia with coloboma 6, digenic (GDF6)
- Microphthalmia with limb anomalies (SMOC1)
- Microphthalmia, Kabuki syndrome 1 (KMT2D)
- Microphthalmia, coloboma, micrognathia, diaphragmatic hernia [panelapp] (TMX3)
- Microphthalmia, isolated 2 (VSX2)
- Microphthalmia, isolated 3 (RAX)
- Microphthalmia, isolated 4 (GDF6)
- Microphthalmia, isolated 5 (MFRP)
- Microphthalmia, isolated 6 (PRSS56)
- Microphthalmia, isolated 7 (GDF3)
- Microphthalmia, isolated 8 (ALDH1A3)
- Microphthalmia, isolated, with coloboma 7 (ABCB6)
- Microphthalmia, isolated, with coloboma 8 (STRA6)
- Microphthalmia, isolated, with coloboma 9 (TENM3)
- Microphthalmia, syndromic 1 (NAA10)
- Microphthalmia, syndromic 11 (VAX1)
- Microphthalmia, syndromic 13 (HMGB3)
- Microphthalmia, syndromic 14 (MAB21L2)
- Microphthalmia, syndromic 15 (TENM3)
- Microphthalmia, syndromic 2 (BCOR)
- Microphthalmia, syndromic 3 (SOX2)
- Microphthalmia, syndromic 5 (OTX2)
- Microphthalmia, syndromic 6 (BMP4)
- Microphthalmia, syndromic 7 (HCCS)
- Microphthalmia, syndromic 9 (STRA6)
- Microphthalmia/coloboma + skeletal dysplasia syndrome (MAB21L2)
- Nanophthalmos 2 (NFRP)
- Nanophthalmos 4 (TMEM98)
- Nanophthalmos [panelapp] (MYRF)
- Nanophthalmos, high hyperopia (MYRF)
- OTX2-related syndromic microphthalmia 4 (OTX2)
- Oculogastrointestinal neurodevelopmental syndrome (CAPN15)
- Optic nerve hypoplasia and abnormalities of the central nervous system (SOX2)
- Orofaciodigital syndrome IX [panelapp] (SCLT1)
- Papillorenal [renal coloboma] syndrome (PAX2)
- Renpenning [mental retardation, XL syndromic] syndrome (PQBP1)
- Septooptic dysplasia [optic nerve hypopl., pituitary hypoplasia, midline brain anomalies] (HESX1)
- Warburg micro syndrome 1 (RAB3GAP1)
- Warburg micro syndrome 12 (RARB)
- Warburg micro syndrome 2 (RAB3GAP2)
- Warburg micro syndrome 3 (RAB18)
- Warburg micro syndrome 4 (TBC1D20)
- AD
- AR
- Mult
- XL
- XLR
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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