A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency (original) (raw)

“…In our family, the two affected individuals born to consanguineous parents, whole exome sequencing showed pathogenic homozygous small insertion in PAX1 gene (c.1173_1174insGCCCG) (p.Pro392Alafs*19) and the phenotype resembled OTFCS2 reported by Pohl et al () and Paganini et al () (Table ). Some of differences in clinical phenotype of our family report and those of reported by Pohl et al (), include external auditory canal abnormalities, middle ear abnormalities, some facial dysmorphic features, clavicle abnormalities, possible underdeveloped thymus, and other findings reported in our patient (Table ).…”

Section: Discussionsupporting

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“…In our family, the two affected individuals born to consanguineous parents, whole exome sequencing showed pathogenic homozygous small insertion in PAX1 gene (c.1173_1174insGCCCG) (p.Pro392Alafs*19) and the phenotype resembled OTFCS2 reported by Pohl et al () and Paganini et al () (Table ). Some of differences in clinical phenotype of our family report and those of reported by Pohl et al (), include external auditory canal abnormalities, middle ear abnormalities, some facial dysmorphic features, clavicle abnormalities, possible underdeveloped thymus, and other findings reported in our patient (Table ).…”

Section: Discussionsupporting

“…We could not do any comparison for external auditory canal and middle ear abnormalities among siblings as neuroimaging was not done in younger sibling. The family reported by Paganini et al () seems to have similar facial and skeletal manifestations except for absence of thymus (Table ). Both the siblings in our family show absent thymic shadow, suggestive of either absence of thymus or small thymus.…”

Section: Discussionmentioning

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