BMC medical genomics · 2018
Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Marakhonov Andrey V, Konovalov Fedor A, Makaov Amin Kh, Vasilyeva Tatyana A, Kadyshev Vitaly V, Galkina Varvara A, Dadali Elena L, Kutsev Sergey I, Zinchenko Rena A
Аннотация
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.
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.