Alpha-thalassemia mental retardation syndrome
Encyclopedia
Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental retardation, nondeletion type or ATR-X syndrome, is a condition caused by a mutated gene
. Female
s with this mutated gene
have no specific signs or features, but may demonstrate skewed X chromosome inactivation. Hemizygous males tend to be moderately mentally retarded
and have physical characteristics including coarse facial features, microcephaly (small head size), hypertelorism (widely spaced eyes), a depressed nasal bridge, a tented upper lip, and an everted lower lip.
It is associated with ATRX
.
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. Female
Female
Female is the sex of an organism, or a part of an organism, which produces non-mobile ova .- Defining characteristics :The ova are defined as the larger gametes in a heterogamous reproduction system, while the smaller, usually motile gamete, the spermatozoon, is produced by the male...
s with this mutated gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
have no specific signs or features, but may demonstrate skewed X chromosome inactivation. Hemizygous males tend to be moderately mentally retarded
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
and have physical characteristics including coarse facial features, microcephaly (small head size), hypertelorism (widely spaced eyes), a depressed nasal bridge, a tented upper lip, and an everted lower lip.
It is associated with ATRX
ATRX
Transcriptional regulator ATRX also known as ATP-dependent helicase ATRX, X-linked helicase II, or X-linked nuclear protein is a protein that in humans is encoded by the ATRX gene.- Function :...
.