At the end (or the supposed end) of my last post i had mentioned a little something about Robert’s Syndrome.
Robert’s syndrome is a genetic disorder caused by the interruption of cell division during the embryonic stages of an unborn human foetus. This may cause severe deformity in the limbs, face and possibly the internal organs of the individual.
Affected individuals, aside form physical abnormalities can experience slowed growth before and after birth which tend to further worsen their condition.
Common symptoms:
- shortened arms and legs (hypomelia)
- limbs may be so short that they are located very close to the body (phocomelia)
- abnormal or missing fingers and toes
- joint deformities along elbows and knees
- cleft lip
- wide set eyes
- small nostrils
- abnormalities in hear, kidneys and genitals
These symptoms may are so drastic that in severe cases infants are either still born or dis shortly after birth 😦
Robert’s syndrome is rare and approximately only 150 individuals have been reported to have it.
Robert’s syndrome is primarily cause by a mutation in the ESCO2 gene. This gene is responsible for proper separation of chromosomes during cell division.
Mutation in this gene results the prevention of the cell producing ESCO 2 protein, which results in sister chromatids to not be “stuck” together around the centromere.
Inheritance background:
Roberts syndrome follows an autosomal recessive pattern (both copies of the gene are mutations of the original gene). It is not sex liked and so both mother and father can have the gene. N.B the parents of an indiviual will have ONE autosomal recessive condition, i.e the parents would be heterozygous for that particular gene and only the dominant form (normal ESCO2 protein prodution) is expressed.
References:
http://ghr.nlm.nih.gov/condition/roberts-syndrome
biochemnewb 