The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head circumference of at least3 standard deviation below the mean.The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degreeof intellectual disability. It has been reported that WDR62 is the second causative gene of autosomal recessive microcephaly(MCPH2) playing a significant role in spindle formation and the proliferation of neuronal progenitor cells.We report a clinical feature, electroclinical findings, and clinical course of a patient with a severe phenotype of MCPH2 includingmicrocephaly, refractory infantile spasms and intellectual disability. Genetic analysis detected a new homozygous splicing variantc.3335+1G>C in the WD repeat domain 62 (WDR62) gene, inherited from both heterozygous healthy parents, and an additionalnew heterozygous missense mutation c.1706T>A of G protein-coupled receptor 56 (GPR56) gene inherited from his healthy father. The study seeks to broaden the knowledge of clinical and electroclinical findings of MCPH2 and to contribute to a better characterization of the genotype-phenotype correlation.
|Numero di pagine||7|
|Rivista||BRAIN & DEVELOPMENT|
|Stato di pubblicazione||Published - 2018|
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