First report of microcephaly-capillary malformations syndrome in Russia

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. W...

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Bibliographic Details
Published in:The Egyptian journal of medical human genetics 2018-04, Vol.19 (2), p.147-150
Main Authors: Demikova, Nataliya S., Kakaulina, Victoria S., Pechatnikova, Nataliya L., Polyakova, Nina A., Zakharova, Ekaterina Y., Krylova, Tatyana D., Zubkova, Marina V.
Format: Article
Language:English
Subjects:
Age
Birth weight
Capillary malformations
Children & youth
Congenital defects
Congenital diseases
Deep developmental delay
Epilepsy
Families & family life
Hypothyroidism
Infants
Microcephaly
Mutation
Patients
Pregnancy
Seizures
STAMBP gene
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Description
Summary: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. 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. This report presents a case of MIC-CAP syndrome with earlier unreported new mutations of the STAMPB gene.
ISSN:1110-8630
2090-2441
DOI:10.1016/j.ejmhg.2017.08.011