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A case with bladder exstrophy and unbalanced X chromosome rearrangement
Cilla Soderhall1, Johanna Lundin2, Kristina Lagerstedt-Robinson3
1Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.
Summary
Bladder exstrophy may be linked to X chromosome aberrations. A female patient with bladder exstrophy and an X chromosome rearrangement highlights a potential X-linked genetic risk factor for this rare condition.
Area of Science:
- Genetics
- Developmental Biology
- Urology
Background:
- Bladder exstrophy is a rare congenital malformation with complex genetic and environmental factors.
- This study investigates a unique case of isolated bladder exstrophy in a young adult female with an X chromosome aberration.
Observation:
- Karyotyping revealed an X chromosome rearrangement with gain in Xq26.3-qter and loss in Xp22.12-pter.
- The rearrangement was present in the patient's mother and sister, who exhibited disproportionate short stature due to SHOX gene deletion but not bladder exstrophy.
- X-inactivation studies showed complete skewed inactivation in carriers, and germline crossover events resulted in distinct genetic material on the rearranged X chromosome between the patient and her sister.
Findings:
- The identified X chromosome rearrangement involves specific gains and losses of genetic material.
- The SHOX gene deletion on Xp22.3 in carriers correlates with disproportionate short stature.
- Skewed X-inactivation patterns were observed in all affected individuals.
Implications:
- These findings suggest a potential X-linked genetic risk factor contributing to bladder exstrophy.
- Further research into X chromosome aberrations may elucidate the etiology of bladder exstrophy.
- Understanding the genetic basis can inform future diagnostic and therapeutic strategies for bladder exstrophy.
Related Concept Videos
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
02:32X and Y Chromosomes
Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
01:19X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
01:19X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
01:58X-Inactivation
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
01:58X-inactivation
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.