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Muzny1, 2 David R. Diagnostic exome sequencing gakan persons with severe intellectual disability. The phenotype of these affected individuals was similar to that of the families with the homozygous PRUNE variant and to the previously published patients with CLP1 mutations Karaca et al.

Open in a separate window. Vedat Hayri Adivar added it May 16, To examine absence of heterozygosity AOH regions surrounding candidate variants, we calculated B-allele frequency using whole exome sequencing data as a ratio of variants reads to total reads. Parental studies for CNVs were beyond the scope of this article. In our cohort, 48 families showed cortical dysplasia atrophy, heterotopia, pachygyria or schizencephaly with or without microcephaly, callosal abnormalities, and hindbrain involvement Figures 1A and 1B.

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Open Preview See a Problem? NK substitution occurs nearby the DEAD domain, which plays a role in several aspects of RNA metabolism processes such as translation initiation and pre-mRNA splicing, whereas the other substitution p.

Author manuscript; available in PMC Nov 4. The encoded protein is a component of the triple T complex which has been shown to play a role in PIKK signaling in brain development and functioning Hurov et al. Genes involved in biological pathways associated with distinct phenotypes We utilized the type of brain malformation in a given individual and an understanding of its underlying molecular pathogenesis in the prioritization of the potential candidate genes identified in this study.


The central nervous system CNS features and pedigree structures of the families are shown as Figure 1 and S1respectively. Mutation in TTI2 reveals a role for triple T complex in human brain development. Review of the SNVs on the complementary chromosome did not reveal any reduction to homozygosity of a recessive variant in a known disease-associated gene in these loci.

An ha,an variant analysis suite for whole exome next-generation sequencing data.

Associated Data Supplementary Materials 2. Please review our privacy policy. The above criteria were then used to screen for the strongest candidate genes in the remaining cases, with the addition of two factors: In addition, we identified homozygous loss of function alleles in three genes with proposed roles in synaptic transmission: Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.

We verified that the observed loss of function variants affected all transcripts, checked whether it was in the last exon or last 55 bp of the penultimate exon which may escape nonsense mediated decay, and reviewed internal and publicly available databases e. Brain dopamine-serotonin vesicular transport disease and its treatment. LR mutation is provided and which also revealed a coarse face in the patient.

Pedigrees, clinical and radiologic images of patients with homozygous LOF mutations Consanguinity between parents is indicated in each pedigree. Consanguinity between parents is indicated in each pedigree. This is consistent with the well-established association between defective neurogenesis, loss of neuroprogenitor cells, and resultant decreased volume of the brain.

PRUNE prune homolog, drosophila is a phosphodiesterase member of the DHH phosphoesterase superfamily and highly expressed in the human fetal brain and fully confined to the nervous system in mouse embryos Reymond et al. The font size of the numbers correlates with the number of individuals that represent any given category.

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Genomic sequencing was performed by the Baylor College of Medicine Human Genome Sequencing Center following previously reported protocols Lupski et al. We suggest that PRUNE has a potential role in the developing human brain in addition to its role in cancer cell metastasis and tumor aggressiveness, and may be added to the growing list of genes involved in both neurodevelopment and cancer, which includes ASPM, MCPH1 Alsiary et al. MasterYoda added it Feb 22, AOH and CNV analysis To examine absence of heterozygosity AOH regions surrounding candidate variants, we calculated B-allele frequency using whole exome sequencing data as a ratio of variants reads to total reads.


Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. This approach is underlined by many of our findings such as a homozygous AGBL2 truncating mutation in a severe cortical dysplasia family; and a KIF23 variant in a patient with primary microcephaly.

Muhammed Batuhan rated it it was ok Dec 25, All affected individuals presented with severe developmental delay, microcephaly, seizures, and cortical atrophy on MRI Figure 5B.

Second, a kb homozygous deletion encompassing almost the entire AP4E1 gene, previously associated with spastic paraplegia 51 MIMwas found in haman BAB with intellectual disability, microcephaly, seizures, spasticity, and hyperintensity changes in both cerebellar hemispheres and subcortical deep white matter Figure 3A.

A homozygous frameshift mutation p. Figure S2 describes the workflow used to identify candidate disease genes.

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Neuroimaging and in silico analysis of functional and expression proximity between candidate and known disease genes allowed for further understanding of genetic networks underlying specific types of brain malformations.

Cell cycle regulation of central spindle assembly. Human metastasis regulator protein H-prune is a short-chain exopolyphosphatase.