Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature

Abstract

Inherited ataxias are an extremely heterogeneous group of disorders. Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and skeletal abnormalities. Mutations in the gene SNX14, which plays an important role in autophagy, have been found to cause SCAR20. The unique clinical findings of progressive coarsening of facial features makes the clinical phenotype recognizable among the various hereditary ataxias. Here we report on a child with a novel missense mutation in the SNX14 gene that appears to be debilitating for protein conformation, function and review the previously reported cases from 15 families.

Meckel syndrome: Clinical and mutation profile in six fetuses

“…Genomic DNA was extracted from affected fetuses (from liver tissue) and parents (from peripheral blood) by DNeasy Blood & Tissue Kit (QIAGEN, Germany). Whole‐exome sequencing (WES) of six fetuses with MKS (F1‐II:4, F2‐II:2, F3‐II:3, F4‐II:1, F5‐II:1 and F6‐II:2) were performed as described earlier . Chromosomal microarray was not performed in any of the fetuses.…”

“…Chromosomal microarray was not performed in any of the fetuses. Protein structure analysis of wild type and mutant B9D2 protein were carried out as previously described . We used I‐TASSER (Iterative Threading ASSEmbly Refinement) server to build the homologous 3D structure of B9D2 protein due to unavailability of protein structure in Protein Data Bank.…”

“…Genomic DNA was extracted from affected fetuses (from liver and F6-II:2) were performed as described earlier. 7,8 Chromosomal microarray was not performed in any of the fetuses. Protein structure analysis of wild type and mutant B9D2 protein were carried out as previously described.…”

“…Protein structure analysis of wild type and mutant B9D2 protein were carried out as previously described. 8 We used I-TASSER (Iterative Threading ASSEmbly Refinement) server to build the homologous 3D structure of B9D2 protein due to unavailability of protein structure in Protein Data Bank. Wild type and mutant protein structures were refined and validated by ProSA (Protein Structure Analysis) web server.…”

Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence

“…Detailed perinatal autopsy and whole‐exome sequencing (WES; Illumina, Inc., San Diego, CA) were performed as described earlier (Nayak et al, ; Shukla et al, ). Sanger sequencing was performed to confirm Mendelian segregation of the variant in the family.…”