A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father

Ornithine transcarbamylase deficiency is an X-linked disease with a wide range of clinical severity and manifestation age both in males and females. Here, we describe a case which is caused by a novel c.78-1G[A splice site mutation, which on mRNA level leads to a 1-bp deletion and a frameshift (c.78delG (p.C27Vfs*11)) in OTC exon 2 in a young girl. The same mutation has been detected in a mosaic state in her asymptomatic father.

First report of microcephaly-capillary malformations syndrome in Russia

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