EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
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Hüffmeier Ulrike, Kraus Cornelia, Reuter Miriam S, Uebe Steffen, Abbott Mary-Alice, Ahmed Syed A, Rawson Kristyn L, Barr Eileen, Li Hong, Bruel Ange-Line, Faivre Laurence, Tran Mau-Them Frédéric, Botti Christina, Brooks Susan, Burns Kaitlyn, Ward D Isum, Dutra-Clarke Marina, Martinez-Agosto Julian A, Lee Hane, Nelson Stanley F, UCLA California Center for Rare Disease, Zacher Pia, Abou Jamra Rami, Klöckner Chiara, McGaughran Julie, Kohlhase Jürgen, Schuhmann Sarah, Moran Ellen, Pappas John, Raas-Rothschild Annick, Sacoto Maria J Guillen, Henderson Lindsay B, Palculict Timothy Blake, Mullegama Sureni V, Zghal Elloumi Houda, Reich Adi, Schrier Vergano Samantha A, Wahl Erica, Reis André, Zweier Christiane
Аннотация
RESULTS: 21 patients were homozygous and one compound heterozygous for c.694T>G/p.(Phe232Val) in EIF3F. Haplotype analyses in 15 families suggested that c.694T>G/p.(Phe232Val) was a founder variant. All affected individuals had developmental delays including delayed speech development. About half of the affected individuals had behavioral problems, altered muscular tone, hearing loss, and short stature. Moreover, this study suggests that microcephaly, reduced sensitivity to pain, cleft lip/palate, gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum. Minor dysmorphic features were observed, although neither the individuals' facial nor general appearance were obviously distinctive. Symptoms in the compound heterozygous individual with an additional truncating variant were at the severe end of the spectrum in regard to motor milestones, speech delay, organic problems and pre- and postnatal growth of body and head, suggesting some genotype-phenotype correlation.
CONCLUSIONS: Our study refines the phenotypic and expands the molecular spectrum of EIF3F-related syndromic neurodevelopmental disorder.