ISSN Print 2500–1094
ISSN Online 2542–1204
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
CLINICAL CASE
Microcephaly-capillary malformation syndrome
About authors
Bochkov Research Center for Medical Genetics, Moscow, Russia
Correspondence should be addressed: Olga A. Shchagina
Moskvorechye, 1, Moscow, 115522; ur.baland@anigahcs, ur.liam@o_anigahcs
About paper
Compliance with ethical standards: the study was approved by the Ethics Committee of the Research Centre for Medical Genetics (protocol № 5/8 dated November 12, 2018). The informed consent to molecular genetic testing, and anonymity-preserving clinical and molecular genetics data publishing (including photos and videos) was submitted by all participants or their legal representatives.
Author contribution: Shchagina OA — study design, molecular genetic analysis, frequency estimation, statistical analysis; Semenova NA, Bessonova LA — clinical examination and genetic counseling of the patients’ families; Larshina EA — biochemical assays, GALT gene analysis; Beskorovainiy NS — exome sequencing data processing; Zakharova EYu — biochemical analysis, prevalence calculation; Ryzhkova OP — pathogenicity analysis of genetic variants, exome sequencing; Poliakov AV — selection of primers for molecular genetic analysis.
Received: 2020-05-18
Accepted: 2020-06-03
Published online: 2020-06-19
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Fig. 1. Phenotype, pedigree and sequencing results for the ST1 family members. А. ST1 family pedigree. B. General appearance of patient ST1.1 at the age of 2. C. General appearance of patient ST1.4 at the age of 5. D. Sanger sequencing chromatograms for patient ST1.1, patient ST1.4, father (ST1.2), mother (ST1.3) and healthy sibling ST1.5 (proband is denoted by the arrow)
Fig. 2. Phenotype, pedigree and sequencing results for the ST5 family members. А. ST5 family pedigree. B. Patient’s general appearance at the age of 3 weeks. C. Sanger sequencing chromatograms for proband, father and mother
Table 1. STAMBP gene variants found in the exomes of residents of the Russian Federation
Table 2. Comparison of patients with MICCAP syndrome
