WGS of pre-T cell receptor-alpha immunodeficiency proband and family

In this study, we describe the role of whole genome sequencing (WGS) in providing a definitive diagnosis for a child with T cell deficiency, where targeted panel sequencing of SCID genes and whole exome sequencing had failed. A novel homozygous 8kb deletion in PTCRA, encoding pTCR, was identified. WGS sequence data from the proband, proband’s mother, and proband’s father are deposited.

Type: Whole Genome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000000866	In this study, we describe the role of whole genome sequencing (WGS) in providing a definitive diagnosis for a child with T cell deficiency, where targeted panel sequencing of SCID genes and whole exome sequencing had failed. A novel homozygous 8kb deletion in PTCRA, encoding pTCR, was identified. WGS sequence data from the proband, proband’s mother, and proband’s father are deposited.	Illumina NovaSeq 6000	3

Publications	Citations
Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing. Merico D, Sharfe N, Dadi H, Thiruvahindrapuram B, de Rijke J, Dahi Z, Zarrei M, Al Ghamdi A, Al Shaqaq A, Vong L, Scherer SW, Roifman CM. NPJ Genom Med 10: 2025 2	0