{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:05:55Z","timestamp":1761843955800},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2010,1,4]],"date-time":"2010-01-04T00:00:00Z","timestamp":1262563200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2010,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Severe congenital neutropenia is an inherited disease characterized by low peripheral blood neutrophils, amenable to bone marrow transplantation. Genetic analysis in the family here described detected a <jats:italic>ELA2<\/jats:italic> splice\u2010site mutation in the affected child and also in his asymptomatic father. The parents requested preimplantation genetic diagnosis (PGD), coupled with HLA matching, to obtain a suitable bone marrow donor for the affected child.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A PGD protocol was developed, based on multiplex nested PCR for direct analysis of the <jats:italic>ELA2<\/jats:italic> mutation, flanking polymorphic markers and HLA typing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The amplification efficiency of the mutation was &gt; 90% in single leukocytes from the affected child but only 67% in the father. Analysis of single haploid sperm cells from the father demonstrated three different sperm\u2010cell populations: (1) sperm cells harboring the <jats:italic>ELA2<\/jats:italic> mutation on the \u2018affected\u2019 haplotype, (2) sperm cells without the <jats:italic>ELA2<\/jats:italic> mutation on the \u2018normal\u2019 haplotype, and (3) sperm cells without the <jats:italic>ELA2<\/jats:italic> mutation on the \u2018affected\u2019 haplotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These data demonstrate that the <jats:italic>ELA2<\/jats:italic> mutation in the father occurred <jats:italic>de novo<\/jats:italic> during his embryonic development, resulting in somatic as well as germ\u2010line mosaicism. This conclusion was also taken into consideration when PGD was performed. 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