Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12

Ayelet Halevy*, Lina Basel-Vanagaite, Avinoam Shuper, Shlomit Helman, Adi Har-Zahav, Efrat Birk, Idit Maya, Liora Kornreich, Dov Inbar, Gudrun Nürnberg, Peter Nürnberg, Tamar Steinberg, Rachel Straussberg

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Postnatal microcephaly is defined as normal head circumference at birth, which progressively declines to more than 2 standard deviations below the average for the patient's age and sex. We describe four patients from three consanguineous families of Arab Bedouin origin who presented with autosomal recessive inheritance of progressive microcephaly, spasticity, thin corpus callosum, pyramidal signs, and intellectual disability. Homozygosity mapping (Human Mapping NspI 250K arrays, Affymetrix, Santa Clara, CA) placed the disease locus at 8q23.2-q24.12. The candidate region includes 22 known or predicted genes, including RAD21, which is related to the cohesion complex EIF3H, which is involved in translation initiation, and TAF2, which may be involved in intellectual disability. Identification of the causative gene in our reported family will shed light on the pathogenesis of this severe condition.

Original languageEnglish
Pages (from-to)363-368
Number of pages6
JournalPediatric Neurology
Issue number6
StatePublished - Jun 2012


FundersFunder number
Israel Science Foundation558/09
Tel Aviv University
Ministry of Health, State of Israel3-4963


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