Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Syndromic microphthalmia 6

Syndromic microphthalmia 6 is an autosomal dominant disorder caused by mutations of the BMP4 gene. In this sndrome, along with various facial dysmorphisms, various urogenital malfomations can be found.

Systematic

Hereditary ocular disease and visual impairment
Aplasia of lacrimal and salivary glands
Fish-eye disease
Hereditary glaucoma
IVIC syndrome
Knobloch syndrome 1
Lacrimoauriculodentodigital syndrome
Ligneous conjunctivitis
Macular degeneration
Manitoba oculotrichoanal syndrome
Papillorenal syndrome
Retinitis pigmentosa
Syndromic microphthalmia 6
BMP4
Usher syndrome

References:

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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Update: Sept. 26, 2018