A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants

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• 作者：Anne Bergougnoux^a ; ^{anne.bergougnoux@inserm.fr" class="auth_mail" title="E-mail the corresponding author} ; Amandine Boureau-Wirth^c ; Cé ; cile Rouzier^c ; Jean-Pierre Altieri^a ; Fanny Verneau^a ; Lise Larrieu^a ; Michel Koenig^a ; ^b ; Mireille Claustres^a ; ^b ; Caroline Raynal^a ; ^b
• 关键词：Cystic fibrosis ; CFTR gene ; Newborn screening ; Complex allele ; False positive
• 刊名：Journal of Cystic Fibrosis
• 出版年：2016
• 出版时间：May 2016
• 年：2016
• 卷：15
• 期：3
• 页码：309-312
• 全文大小：332 K

文摘

The detection of two frequent CFTR disease-causing variations in the context of a newborn screening program (NBS) usually leads to the diagnosis of cystic fibrosis (CF) and a relevant genetic counseling in the family. In the present study, CF-causing variants p.Phe508del (F508del) and c.3140-26 A > G (3272-26 A > G) were identified on a neonate with positive ImmunoReactive Trypsinogen test by the Elucigene™ CF30 kit. The CF diagnosis initially suggested, despite three inconclusive Sweat Chloride Tests (SCT), was finally ruled out after the familial segregation study combined with a negative SCT. Haplotype studies, based on the comparison of 80 p.Phe508del haplotypes, suggested a probable de novo occurrence of c.3140-26 A > G on the p.Phe508del ancestral allele in this family.

This false positive case emphasizes the importance of SCT in the NBS strategy. Moreover, it raises the need for familial segregation studies in CF and in overall molecular diagnosis strategy of autosomal recessive diseases.