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Egyptian Journal of Medical Human Genetics

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First report of microcephaly-capillary malformations syndrome in Russia

Nataliya S. Demikova, Victoria S. Kakaulina, Nataliya L. Pechatnikova, Nina A. Polyakova, Ekaterina Y. Zakharova, Tatyana D. Krylova, Marina V. Zubkova

Abstract


Background: Microcephaly-capillary malformation (MIC-CAP) syndrome is a newly described autosomal recessive syndrome characterized by microcephaly, multiple cutaneous capillary malformations, intractable epilepsy and profound developmental delay. We present the first description of MIC-CAP syndrome in Russia.

Patient: We describe a 6-month-old girl with severe congenital microcephaly, intractable epilepsy (infantile spasms), multiple cutaneous capillary malformations and facial abnormalities. Genetic studies revealed the presence of new STAMPB gene mutations in the compound heterozygous state: c.273delA and the intron replacement c.204-5 C > G.

Conclusions: This report presents a case of MIC-CAP syndrome with earlier unreported new mutations of the STAMPB gene.

Keywords: Microcephaly, Capillary malformations, Epilepsy, Deep developmental delay, STAMBP gene




http://dx.doi.org/10.1016/j.ejmhg.2017.08.011
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