ArticleJournal of assisted reproduction and genetics2012
Severe combined immunodeficiency (SCID): from the detection of a new mutation to preimplantation genetic diagnosis.
Article in Journal of assisted reproduction and genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths.Orphanet journal of rare diseases · 2025Article
- A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer.Familial cancer · 2022Article
- The Special Features of Prenatal and Preimplantation Genetic Counseling in Arab Countries.Genes · 2022Review
- High-Frequency Exon Deletion of DNA Cross-Link Repair 1C Accounting for Severe Combined Immunodeficiency May Be Missed by Whole-Exome Sequencing.Frontiers in genetics · 2021Article
- Pregnancy, child bearing and prevention of giving birth to the affected children in patients with primary immunodeficiency disease; a case-series.BMC pregnancy and childbirth · 2018Article
- Not All SCID Pigs Are Created Equally: Two Independent Mutations in the Artemis Gene Cause SCID in Pigs.Journal of immunology (Baltimore, Md. : 1950) · 2015Article
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe the identification of a new mutation responsible for causing human severe combined immunodeficiency syndrome (SCID). In a large consanguineous Israeli Arab family, this served as a diagnostic tool and enabled us to carry out preimplantation genetic diagnosis (PGD). We also demonstrated that PGD for homozygosity alleles is feasible.
methodsWe carried out genome-wide screening followed by fine mapping and linkage analysis in order to identify the candidate genes. We then sequenced DCLRE1C in order to find the familial mutation. The family was anxious to avoid the birth of an affected child, and therefore, because of their religious beliefs, PGD was the only option open to them. The embryos were biopsied at day 3, and a single blastomere from each embryo was analyzed by multiplex polymerase chain reaction for the SCID mutation and 5 additional polymorphic markers flanking DCLRE1C.
resultsLinkage analysis revealed linkage to chromosome 10p13, which harbors the DNA Cross-Link Repair Protein 1 C (DCLRE1C) ARTEMIS gene. Sequencing identified an 8 bp insertion in exon 14 (1306ins8) of DCLRE1C in all the affected patients; this causes an alteration in amino acid 330 of the protein from cysteine to a stop codon (p.C330X). One cycle of PGD was performed and two embryos were transferred, one homozygous wild-type and one a heterozygous carrier, and healthy twins were born.
conclusionsIdentifying the familial mutation enabled us to design a reliable and accurate PGD protocol, even in this case of a consanguineous family.
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