Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion

CS/CISS1, is an autosomal recessive disorder caused in 95% of cases by mutations in CRLF1 gene on chromosome 19p13. We first report an infant with CS/CISS1 due to compound heterozygosity for 2 CRLF1 mutations: a paternal 44kb deletion involving the neighboring genes TMEM59L and C19orf60, implicated in normal neurodevelopment and a maternal partial deletion encompassing exons 5-9.