Background: This case report describes a novel genotypic and phenotypic presentation of Alazami-Yuan syndrome, and contributes to the current knowledge on the condition.
Case summary: We report an 11-year-old boy with Alazami-Yuan syndrome. The main clinical manifestations were rapid development of puberty, typical facial features of Cornelia de Lange syndrome, and normal intelligence. Peripheral blood DNA samples obtained from the patient and his parents were sequenced using high-throughput whole-exosome sequencing, which was verified by Sanger sequencing. The results showed that there was a compound heterozygous mutation of c.1052delT and c.76A>T in the TATA-Box Binding Protein Associated Factor 6 (TAF6) gene. The mutation of c.1052delT was from his mother and the mutation of c.76A>T was from his father.
Conclusion: This study extends the mutation spectrum of the TAF6 gene, and provides a molecular basis for the etiological diagnosis of Alazami-Yuan syndrome and genetic consultation for the family.
Keywords: Alazami-Yuan syndrome; Case report; Children; Cornelia de Lange syndrome; TAF6.
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