First report of microcephaly-capillary malformations syndrome in Russia
Joint Authors
Demikova, Nataliya S.
Kakaulina, Victoria S.
Pechatnikova, Nataliya L.
Polyakova, Nina A.
Zakharova, Ekaterina Y.
Krylova, Tatyana D.
Zubkova, Marina V.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 19, Issue 2 (30 Apr. 2018), pp.146-150, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2018-04-30
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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
American Psychological Association (APA)
Demikova, Nataliya S.& Kakaulina, Victoria S.& Pechatnikova, Nataliya L.& Polyakova, Nina A.& Zakharova, Ekaterina Y.& Krylova, Tatyana D.…[et al.]. 2018. First report of microcephaly-capillary malformations syndrome in Russia. The Egyptian Journal of Medical Human Genetics،Vol. 19, no. 2, pp.146-150.
https://search.emarefa.net/detail/BIM-905687
Modern Language Association (MLA)
Demikova, Nataliya S.…[et al.]. First report of microcephaly-capillary malformations syndrome in Russia. The Egyptian Journal of Medical Human Genetics Vol. 19, no. 2 (Apr. 2018), pp.146-150.
https://search.emarefa.net/detail/BIM-905687
American Medical Association (AMA)
Demikova, Nataliya S.& Kakaulina, Victoria S.& Pechatnikova, Nataliya L.& Polyakova, Nina A.& Zakharova, Ekaterina Y.& Krylova, Tatyana D.…[et al.]. First report of microcephaly-capillary malformations syndrome in Russia. The Egyptian Journal of Medical Human Genetics. 2018. Vol. 19, no. 2, pp.146-150.
https://search.emarefa.net/detail/BIM-905687
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 150
Record ID
BIM-905687