Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.

Abstract:

BACKGROUND: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. CASE PRESENTATION: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. CONCLUSIONS:Our case represents an additional support for the clinical continuum between Seckel Syndrome and primary microcephaly.

journal_name

BMC Med Genomics

journal_title

BMC medical genomics

authors

Marakhonov AV,Konovalov FA,Makaov AK,Vasilyeva TA,Kadyshev VV,Galkina VA,Dadali EL,Kutsev SI,Zinchenko RA

doi

10.1186/s12920-018-0326-1

subject

Has Abstract

pub_date

2018-02-13 00:00:00

pages

8

issue

Suppl 1

issn

1755-8794

pii

10.1186/s12920-018-0326-1

journal_volume

11

pub_type

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