Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2

Shlomit Hellman-Aharony, Pola Smirin-Yosef, Ayelet Halevy, Metsada Pasmanik-Chor, Adva Yeheskel, Adi Har-Zahav, Idit Maya, Rachel Straussberg, Dvir Dahary, Ami Haviv, Mordechai Shohat, Lina Basel-Vanagaite*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Background The combination of microcephaly, pyramidal signs, abnormal corpus callosum, and intellectual disability presents a diagnostic challenge. We describe an autosomal recessive disorder characterized by microcephaly, pyramidal signs, thin corpus callosum, and intellectual disability. Methods We previously mapped the locus for this disorder to 8q23.2-q24.12; the candidate region included 22 genes. We performed Sanger sequencing of 10 candidate genes; to ensure other genes in the candidate region do not harbor mutations, we sequenced the exome of one affected individual. Results We identified two homozygous missense changes, p.Thr186Arg and p.Pro416His in TAF2, which encodes a multisubunit cofactor for TFIID-dependent RNA polymerase II-mediated transcription, in all affected individuals. Conclusions We propose that the disorder is caused by the more conserved mutation p.Thr186Arg, with the second sequence change identified, p.Pro416His, possibly further negatively affecting the function of the protein. However, it is unclear which of the two changes, or maybe both, represents the causative mutation. A single missense mutation in TAF2 in a family with microcephaly and intellectual disability was described in a large-scale study reporting on the identification of 50 novel genes. We suggest that a mutation in TAF2 can cause this syndrome.

Original languageEnglish
Pages (from-to)411-416.e1
JournalPediatric Neurology
Issue number6
StatePublished - Dec 2013


FundersFunder number
Israeli Ministry of Health Chief Scientist Foundation3-4963
Israel Science Foundation09/558
Tel Aviv University


    • Microcephaly syndrome
    • TAF2
    • autosomal recessive
    • corpus callosum
    • pyramidal


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