ID
45417
Descripción
Principal Investigator: Erik G. Puffenberger, PhD, Clinic for Special Children, Strasburg, PA, USA MeSH: Developmental Disabilities,Metabolic Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000623 The Clinic for Special Children (CSC) has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children. Among the Plain people, we have used single nucleotide polymorphism (SNP) microarrays to genetically map recessive disorders to large autozygous haplotype blocks (mean = 4.4 Mb) that contain many genes (mean = 79). For some, uninformative mapping or large gene lists preclude disease-gene identification by Sanger sequencing. Seven such conditions were selected for exome sequencing at the Broad Institute; all had been previously mapped at the CSC using low density SNP microarrays coupled with autozygosity and linkage analyses. Using between 1 and 5 patient samples per disorder, we identified sequence variants in the known disease-causing genes SLC6A3 and FLVCR1, and present evidence to strongly support the pathogenicity of variants identified in TUBGCP6, BRAT1, SNIP1, CRADD, and HARS. Our results reveal the power of coupling new genotyping technologies to population-specific genetic knowledge and robust clinical data.
Link
Palabras clave
Versiones (1)
- 23/11/22 23/11/22 - Simon Heim
Titular de derechos de autor
Erik G. Puffenberger, PhD, Clinic for Special Children, Strasburg, PA, USA
Subido en
23 de noviembre de 2022
DOI
Para solicitar uno, por favor iniciar sesión.
Licencia
Creative Commons BY 4.0
Comentarios del modelo :
Puede comentar sobre el modelo de datos aquí. A través de las burbujas de diálogo en los grupos de elementos y elementos, puede agregar comentarios específicos.
Comentarios de grupo de elementos para :
Comentarios del elemento para :
Para descargar modelos de datos, debe haber iniciado sesión. Por favor iniciar sesión o Registrate gratis.