| Title |
Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders
|
|---|---|
| Published in |
BMC Medical Genomics, February 2018
|
| DOI | 10.1186/s12920-018-0326-1 |
| Pubmed ID | |
| Authors |
Andrey V. Marakhonov, Fedor A. Konovalov, Amin Kh. Makaov, Tatyana A. Vasilyeva, Vitaly V. Kadyshev, Varvara A. Galkina, Elena L. Dadali, Sergey I. Kutsev, Rena A. Zinchenko |
| Abstract |
Primary microcephaly represents an example of clinically and genetically heterogeneous condition. Here we describe a case of primary microcephaly from the Karachay-Cherkess Republic, which was initially diagnosed with Seckel syndrome. Clinical exome sequencing of the proband revealed a novel homozygous single nucleotide deletion in ASPM gene, c.1386delC, resulting in preterm termination codon. Population screening reveals allele frequency to be less than 0.005. Mutations in this gene were not previously associated with Seckel syndrome. Our case represents an additional support for the clinical continuum between Seckel Syndrome and primary microcephaly. |
Mendeley readers
The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 18 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 4 | 22% |
| Student > Master | 3 | 17% |
| Researcher | 2 | 11% |
| Student > Bachelor | 1 | 6% |
| Unspecified | 1 | 6% |
| Other | 2 | 11% |
| Unknown | 5 | 28% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 4 | 22% |
| Medicine and Dentistry | 3 | 17% |
| Neuroscience | 2 | 11% |
| Nursing and Health Professions | 1 | 6% |
| Arts and Humanities | 1 | 6% |
| Other | 2 | 11% |
| Unknown | 5 | 28% |