PXDN
Homo sapiens
Gene Name: peroxidasin
Aliases: ASGD7, COPOA, D2S448, D2S448E, MG50, PRG2, PXN, VPO
Chromosome No: 2
Chromosome Band: 2p25.3
Genetic Category: Multigenic CNV-Rare single gene variant-Syndromic
Aliases: ASGD7, COPOA, D2S448, D2S448E, MG50, PRG2, PXN, VPO
Chromosome No: 2
Chromosome Band: 2p25.3
Genetic Category: Multigenic CNV-Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 8
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 6
Evidence score: 2
ASD Reports: 8
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A germline mosiac duplication of the PXDN and MYT1L genes was transmitted from a psychiatrically normal mother to two male half-siblings with autism (Meyer et al., 2012).
Molecular Function
This gene encodes a heme-containing peroxidase that is secreted into the extracellular matrix and is involved in extracellular matrix formation. Homozygous mutations in PXDN have been reported in two consanguineous Pakistani families with congenital cataract-microcornea with mild to moderate corneal opacity and in a consanguineous Cambodian family with developmental glaucoma and severe corneal opacification (Khan et al., 2011).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism.
ASD
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Identification of rare copy number variants in high burden schizophrenia families.
SCZ
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population
BPD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
