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Prenatal diagnosis of JAK3 deficient SCID
Author(s) -
Schumacher R. F.,
Mella P.,
Lalatta F.,
Fiorini M.,
Giliani S.,
Villa A.,
Candotti F.,
Notarangelo Luigi D.
Publication year - 1999
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199907)19:7<653::aid-pd606>3.0.co;2-h
Subject(s) - prenatal diagnosis , exon , severe combined immunodeficiency , chorionic villus sampling , fetus , gene , biology , mutation , genetics , medicine , microbiology and biotechnology , pregnancy
The JAK3 gene, encoding a tyrosine kinase functionally coupled to cytokine receptors which share the common gamma chain, has been identified as the defective gene for autosomal recessive severe combined immunodeficiency (SCID). Thus, specific mutational diagnosis has become possible. We screened all exons with a combined single strand conformational polymorphism and hetero‐duplex formation assay followed by sequence analysis to identify specific mutations in two families. This assay was used on chorionic villus sampling derived DNA in two fetuses from two unrelated families, where we found mutations in both parents. We were able to exclude the mutations in both fetuses by the 12th week of gestation. The described method for first‐trimester prenatal diagnosis of autosomal recessive T‐B+SCID provides a valid tool to aid in genetic counselling and possibly prenatal therapy in this disease. Copyright © 1999 John Wiley & Sons, Ltd.