TY - JOUR
T1 - Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12
AU - Halevy, Ayelet
AU - Basel-Vanagaite, Lina
AU - Shuper, Avinoam
AU - Helman, Shlomit
AU - Har-Zahav, Adi
AU - Birk, Efrat
AU - Maya, Idit
AU - Kornreich, Liora
AU - Inbar, Dov
AU - Nürnberg, Gudrun
AU - Nürnberg, Peter
AU - Steinberg, Tamar
AU - Straussberg, Rachel
N1 - Funding Information:
The authors thank Gabrielle J. Halpern, MB ChB, for help with editing the manuscript. This study was supported by the Chief Scientist Foundation of the Israeli Ministry of Health (grant 3-4963 ), the Israeli Science Foundation (grant 558/09 ), and the Adler Chair in Pediatric Cardiology (Tel Aviv University, Tel Aviv, Israel).
PY - 2012/6
Y1 - 2012/6
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84861623472&partnerID=8YFLogxK
U2 - 10.1016/j.pediatrneurol.2012.03.014
DO - 10.1016/j.pediatrneurol.2012.03.014
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C2 - 22633631
AN - SCOPUS:84861623472
SN - 0887-8994
VL - 46
SP - 363
EP - 368
JO - Pediatric Neurology
JF - Pediatric Neurology
IS - 6
ER -
