A Case for the Ages
11/01/13 16:03 Filed in: GenomeWeb Daily Scan
Submitted by S. Pelech - Kinexus on Tue, 01/15/2013 - 21:30
Brooke Greenberg's cessation of normal development is fascinating case. Although few details are disclosed in the Katie interview, it appears that Brooke has the mental age of a one year old and the physical appearance of a 5 year old. In her first five years, she suffered from several ailments from which she fully recovered, including stomach ulcers, seizures, strokes and near the time that she apparently stopped growing, a brain mass that rapidly disappeared after she slept for 14 days straight. While she has not changed much in outward appearance in the last 15 years, her telomeres are shortening at a normal rate and her bones have continued to age at slower rate. Thus it would appear that Brooke will probably not have a longer life span than normal.
Her doctors have failed to identify any known genetic syndromes or chromosomal abnormalities. Gene sequencing of Brooke's genes associated with the premature aging diseases did not reveal any deleterious mutations. Dr. Eric Schadt's team is performing genome-wide-sequence analyses of Brooke's genome to try to identify the mutation(s) that can result in this rare phenotype. If I was pursuing this problem, I would focus my attention on the mutations that arise in her transcription factors that are not found in her other family members, especially transcription factors that are highly restricted in their expression in early childhood development. This could significantly narrow done the search as some 60 million SNP's are suspected to exist in the human genome.
Link to the original blog post
Brooke Greenberg's cessation of normal development is fascinating case. Although few details are disclosed in the Katie interview, it appears that Brooke has the mental age of a one year old and the physical appearance of a 5 year old. In her first five years, she suffered from several ailments from which she fully recovered, including stomach ulcers, seizures, strokes and near the time that she apparently stopped growing, a brain mass that rapidly disappeared after she slept for 14 days straight. While she has not changed much in outward appearance in the last 15 years, her telomeres are shortening at a normal rate and her bones have continued to age at slower rate. Thus it would appear that Brooke will probably not have a longer life span than normal.
Her doctors have failed to identify any known genetic syndromes or chromosomal abnormalities. Gene sequencing of Brooke's genes associated with the premature aging diseases did not reveal any deleterious mutations. Dr. Eric Schadt's team is performing genome-wide-sequence analyses of Brooke's genome to try to identify the mutation(s) that can result in this rare phenotype. If I was pursuing this problem, I would focus my attention on the mutations that arise in her transcription factors that are not found in her other family members, especially transcription factors that are highly restricted in their expression in early childhood development. This could significantly narrow done the search as some 60 million SNP's are suspected to exist in the human genome.
Link to the original blog post