Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism.
Roseli Maria Zechi-Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini-Pittoli et al.
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Case in brief
Two Brazilian females with syndromic orofacial clefts had similar atypical facial features and multisystem anomalies, including moderate-to-severe global developmental delay. One had severe behavioral difficulties with non-verbal autism; the other had inguinal cancer. Next-generation sequencing identified heterozygous missense variants in TRRAP in both, within the 1031–1159 amino-acid cluster. The authors describe these cases as supporting the association between variants in this region and a severe phenotype, while noting a possible new domain within the cluster.
What made this case unusual
Both patients had syndromic orofacial clefts and similar atypical facial phenotypes alongside TRRAP variants in the 1031–1159 cluster; one also had inguinal cancer.
Diagnostic / clinical pearl
In patients with syndromic orofacial clefting, developmental delay, and atypical facial features, TRRAP variants should be considered; the reported variants clustered within residues 1031–1159.