Article

Autosomal recessive <i>SLC30A9</i> Mutations in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity

2021-07-22

Abstract excerpt

An SLC30A9- associated cerebro-renal syndrome was first reported in consanguineous Bedouin kindred by Perez et al. in 2017. While the function of the gene has not yet been fully elucidated, it may be implicated in Wnt signaling, nuclear regulation, as well as cell and mitochondrial zinc regulation. In this research report, we present a female proband with two distinct, inherited autosomal recessive loss-of-functio...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 91130473-0018-5a5b-abe1-19f55eb54bd1
DOI: 10.1101/2021.07.21.21260807

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Autosomal recessive <i>SLC30A9</i> Mutations in a Proband with a Cerebro-Renal Syndrome and No Parental ConsanguinityDOI 10.1101/2021.07.21.21260807Read

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.Semantic proximity Read

Expanding the Phenotype of Syndromic SLC30A9 -Associated Disease.Semantic proximity Read

SLC30A9: an evolutionarily conserved mitochondrial zinc transporter essential for mammalian early embryonic developmentSemantic proximity Read

Whole-Genome Sequencing Identifies Potentially Causative Variants in SOX30, AKAP4, and RNF220 in Non-Obstructive AzoospermiaSemantic proximity Read

Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement.Semantic proximity Read

A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review.Semantic proximity Read

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.Semantic proximity Read

One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype.Semantic proximity Read

Population Genetics Analysis of<i>SLC3A1</i>and<i>SLC7A9</i>Revealed the Etiology of Cystine Stone May Be More Than What Our Current Genetic Knowledge Can ExplainSemantic proximity Read

Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.Semantic proximity Read

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfectaSemantic proximity Read

Pathogenic mechanisms underlying SLC6A1 variant-mediated neurodevelopmental disorders.Semantic proximity Read