Autosomal recessive spinocerebellar ataxia‐20 due to a novel SNX14 variant in an Indian girl

@article{Sait2022AutosomalRS,
  title={Autosomal recessive spinocerebellar ataxia‐20 due to a novel SNX14 variant in an Indian girl},
  author={Haseena Sait and Amita Moirangthem and Vinita Agrawal and Shubha R. Phadke},
  journal={American Journal of Medical Genetics Part A},
  year={2022},
  volume={188},
  pages={1909 - 1914}
}
Autosomal recessive spinocerebellar ataxia‐20 is a rare disorder having distinctive coarse facies in addition to intellectual disability and cerebellar ataxia, with less than 35 cases reported worldwide. It is caused by biallelic variants in the SNX14 gene and is classified under the group of autophagy disorders. We report a 9‐year‐old girl who presented with classic clinical features of autosomal recessive spinocerebellar ataxia‐20 and cerebellar atrophy on magnetic resonance imaging of brain… 

References

SHOWING 1-10 OF 14 REFERENCES
Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20
TLDR
This study allowed to extend the knowledge of the phenotypic and mutational spectrum of SCAR20, and to validate the role of Sorting nexin-14 in a well-defined neurodevelopmental syndrome, which can lead to cognitive impairment.
Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability
TLDR
The present study aimed to identify the gene mutation responsible for a complex phenotype comprising cerebellar ataxia and intellectual disability segregating in an Omani consanguineous family, and identified a novel frameshift mutation within the sorting nexin 14 gene (SNX14), which predicts complete absence of the SNX14 encoded protein.
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
TLDR
A new clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ataxia, coarsened facial features and intellectual disability is described, due to truncating mutations in the sorting nexin gene SNX14, encoding a ubiquitously expressed modular PX domain–containing sorting factor.
Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters
TLDR
Two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia are reported on, suggesting this condition constitutes a previously unreported autosomal recessive entity.
Homozygosity stretches around homozygous mutations in autosomal recessive disorders: patients from nonconsanguineous Indian families
TLDR
Long stretches of homozygosity around homozygous rare pathogenic variants in nonconsanguineous families with rare AR disorders supports the notion that these couples may have a common ancestor for more than six generations and the system of marriages between same groups.
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.
TLDR
How congenital disorders of autophagy inform the understanding of the importance of this fascinating cellular pathway for central nervous system biology and disease is discussed, and associations between defective autophile and other inborn errors of metabolism are highlighted.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
TLDR
Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends thatclinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments–approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent.
Sorting out the cellular functions of sorting nexins
TLDR
The authors would like to apologize for the following omissions: the following reference should have been included in the reference list: Ref. 92, references 92 and 92.
...
...