A Case Study Analysis of Baller-Gerold Syndrome
Additional Funding Sources
The project described was supported by the Department of Biological Sciences and the Institutional Development Awards (IDeA) from the National Institute of General Medical Sciences of the National Institutes of Health under Grant Nos. P20GM103408 and P20GM109095.
Presentation Date
7-2020
Abstract
Baller-Gerold syndrome (BGS) is a rare genetic disorder characterized by premature closure of cranial bones and abnormalities in the bones of the arms and hands. The exact prevalence of this disease is not known, but it is estimated that fewer than one per million newborns are affected. This is reflected in the medical literature with fewer than 40 cases being reported as of January 21, 2020. Cases are cited as being caused by a mutation in the RECQL4 gene that is inherited in an autosomal recessive manner, though the proportion of patients that present with this mutation is not known. The RECQL4 gene is responsible for providing the instructions to make the RecQ helicases. Helicases temporarily unwind the DNA to allow access for DNA replication, transcription, or repair. Due to the systemic nature of this mutation, current treatments aim to alleviate BGS symptoms. The implications BGS has on development as well as how it affects patients' progress in the duration of their life will be described.
A Case Study Analysis of Baller-Gerold Syndrome
Baller-Gerold syndrome (BGS) is a rare genetic disorder characterized by premature closure of cranial bones and abnormalities in the bones of the arms and hands. The exact prevalence of this disease is not known, but it is estimated that fewer than one per million newborns are affected. This is reflected in the medical literature with fewer than 40 cases being reported as of January 21, 2020. Cases are cited as being caused by a mutation in the RECQL4 gene that is inherited in an autosomal recessive manner, though the proportion of patients that present with this mutation is not known. The RECQL4 gene is responsible for providing the instructions to make the RecQ helicases. Helicases temporarily unwind the DNA to allow access for DNA replication, transcription, or repair. Due to the systemic nature of this mutation, current treatments aim to alleviate BGS symptoms. The implications BGS has on development as well as how it affects patients' progress in the duration of their life will be described.