Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Knobloch-Syndrome 1

Das Knobloch-Syndrome 1 ist eine autosomal rezessive Erkrankung, die durch Mutationen im Kollagen XVIII-Gen COL18A1 hervorgerufen wird. Zum klinischen Bild gehören vor allem Augenveränderungen wie hochgradige Myopie, Katarakt, Linsendislokation, vitroretinale Degeneration und Retinablösung. Auch Defekte am Hinterkopf gehören zu diesem Syndrom.

Gliederung

Erbliche Augenerkrankungen und Sehstörungen
Fischaugen-Erkrankung
Hereditäres Glaucom
IVIC-Syndrom
Knobloch-Syndrome 1
COL18A1
Lakrimo-aurikulo-dento-digitales Syndrom
Makuladegeneration
Marles-Syndrom
Papillorenales Syndrom
Retinitis pigmentosa 17
Syndromische Microphthalmie 6
Tränen- und Speicheldrüsenaplasie
Usher-Syndrom

Referenzen:

1.

Czeizel AE et. al. (1992) The second report of Knobloch syndrome.

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2.

Sertié AL et. al. (2000) Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).

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3.

Menzel O et. al. (2004) Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.

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4.

Keren B et. al. (2007) CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.

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5.

Khaliq S et. al. (2007) Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.

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6.

Paisán-Ruiz C et. al. (2009) Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder.

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7.

Mahajan VB et. al. (2010) Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.

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8.

Joyce S et. al. (2010) Locus heterogeneity and Knobloch syndrome.

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9.

Najmabadi H et. al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

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10.

Aldahmesh MA et. al. (2013) No evidence for locus heterogeneity in Knobloch syndrome.

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11.

Pagon RA et. al. (1978) Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD +/- E) syndrome: an autosomal recessive condition.

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12.

Cohen MM et. al. (1982) Syndromes with cephaloceles.

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13.

Passos-Bueno MR et. al. (1994) Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance.

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14.

Seaver LH et. al. (1993) Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome.

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15.

Sertié AL et. al. (1996) A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.

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16.

Wilson C et. al. (1998) Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies.

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17.

Sniderman LC et. al. (2000) Knobloch syndrome involving midline scalp defect of the frontal region.

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18.

Kliemann SE et. al. (2003) Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families.

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19.

Aldahmesh MA et. al. (2011) Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.

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