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X-linked recessive inheritance. X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.
X-linked dominant inheritance occurs less frequently. Only one copy of the mutated alleles on the X chromosomes is sufficient to cause the disorder when inherited from an affected parent. Unlike in X-linked recessive inheritance, X-linked dominant traits can affect females as much as males. Affected fathers alone will not lead to affected sons.
X-linked spinal muscular atrophy type 2 is inherited in an X-linked recessive pattern. The gene associated with this disorder, UBA1, is located on the X chromosome at Xp11.3 and contains 27 exons; moreover, translation begins at the second exon. [6]
In X-linked recessive disorders, only females can be the carriers of the recessive mutation, making them obligate carriers of this type of disease. Females acquire one X-chromosome from their father and one from their mother, and this means they can either be heterozygous for the mutated allele or homozygous. If heterozygous, she is a carrier ...
X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability. As with most X-linked disorders, males are more heavily affected than females. [1] Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms.
Females possessing one X-linked recessive mutation are considered carriers and will generally not manifest clinical symptoms of the disorder, although differences in X chromosome inactivation can lead to varying degrees of clinical expression in carrier females since some cells will express one X allele and some will express the other. All ...
Absence of the XK protein is an X-linked disease. [3] Mutational variants result in McLeod syndrome either with or without neuroacanthocytosis: the gene on the X chromosome for McLeod syndrome is physically close to the gene for chronic granulomatous disease. As a result, an individual with one relatively small deletion may have both diseases. [4]
The disorder is inherited in an X-linked dominant manner. [ 1 ] [ 2 ] This means the defective gene responsible for the disorder (PHEX) is located on the X chromosome, and only one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who has the disorder.