Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Syndromische Microphthalmie 6

Die syndromische Microphthalmie 6 ist eine autosomal dominante Erkrankung die durch mutationen im BMP4-Gen hervorgerufen wird. Neben den Gesichtsfehlbildungen finden sich bei diesem Syndrom auch urogenitale Fehlbildungen.

Gliederung

Erbliche Augenerkrankungen und Sehstörungen
Fischaugen-Erkrankung
Hereditäres Glaucom
IVIC-Syndrom
Knobloch-Syndrome 1
Lakrimo-aurikulo-dento-digitales Syndrom
Makuladegeneration
Marles-Syndrom
Papillorenales Syndrom
Retinitis pigmentosa 17
Syndromische Microphthalmie 6
BMP4
Tränen- und Speicheldrüsenaplasie
Usher-Syndrom

Referenzen:

1.

Bakrania P et. al. (2008) Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

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2.

Reis LM et. al. (2011) BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.

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3.

Gallardo ME et. al. (1999) Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.

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4.

Bennett CP et. al. (1991) Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities.

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5.

Elliott J et. al. (1993) A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.

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6.

Phadke SR et. al. (1994) Anophthalmia with cleft palate and micrognathia: a new syndrome?

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7.

Lemyre E et. al. (1998) Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia.

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8.

Reddy MA et. al. (2003) A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.

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9.

Ahmad ME et. al. (2003) 14q(22) deletion in a familial case of anophthalmia with polydactyly.

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10.

Morini F et. al. (2005) Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature.

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11.

Aijaz S et. al. (2004) Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.

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12.

Smartt JM et. al. (2005) Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction.

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13.

Nolen LD et. al. (2006) Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.

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