Publication

Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome

Patrick Descombes, Tatiana Favez
2011
Journal Articles

Abstract

Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, not linked to the 10p11.23 locus, whose two affected children have a homozygous mutation in SMOC1. Knockdown experiments of the zebrafish smoc1 revealed that smoc1 is important in eye development and that it is expressed in many organs, including brain and somites.

Official source

https://infoscience.epfl.ch/entities/publication/c1ca00e4-c17c-4b7d-b80c-78cdebf9e706

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Patrick Descombes, Tatiana Favez
2011
Journal Articles

Abstract

Official source

https://infoscience.epfl.ch/entities/publication/c1ca00e4-c17c-4b7d-b80c-78cdebf9e706

About this result

Related concepts (20)

Eye movement

Eye movement includes the voluntary or involuntary movement of the eyes. Eye movements are used by a number of organisms (e.g. primates, rodents, flies, birds, fish, cats, crabs, octopus) to fixate, inspect and track visual objects of interests. A special type of eye movement, rapid eye movement, occurs during REM sleep. The eyes are the visual organs of the human body, and move using a system of six muscles. The retina, a specialised type of tissue containing photoreceptors, senses light.

Birth defect

A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders.

Eye movement in reading

Eye movement in reading involves the visual processing of written text. This was described by the French ophthalmologist Louis Émile Javal in the late 19th century. He reported that eyes do not move continuously along a line of text, but make short, rapid movements (saccades) intermingled with short stops (fixations). Javal's observations were characterised by a reliance on naked-eye observation of eye movement in the absence of technology.

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Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome

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