PRDM13

Last update 08 May 2025

Basic Info

Synonyms

PFM10, PR domain zinc finger protein 13, PR domain-containing protein 13

+ [2]

Introduction

May be involved in transcriptional regulation. Is required for the differentiation of KISS1-expressing neurons in the arcuate (Arc) nucleus of the hypothalamus. Is a critical regulator of GABAergic cell fate in the cerebellum, required for normal postnatal cerebellar development (By similarity).

100 Clinical Results associated with PRDM13

100 Translational Medicine associated with PRDM13

0 Patents (Medical) associated with PRDM13

Literatures (Medical) associated with PRDM13

01 Dec 2024·Journal of Urology

Exploring the Genetic Risk of Childhood Daytime Urinary Incontinence: A Genome-Wide Association Study

Article

Author: Borg, Britt ; Walters, G. Bragi ; Rittig, Søren ; Stéfansdóttir, Lilja ; Werge, Thomas ; Stefánsson, Hreinn ; Agerbo, Esben ; Breinbjerg, Anders ; Eðvarðsson, Viðar Ö. ; Stefánsson, Kári ; Jørgensen, Cecilie Siggaard ; Børglum, Anders ; Christensen, Jane Hvarregaard ; Vilhjálmsson, Bjarni J. ; Als, Thomas D. ; Demontis, Ditte ; Thirstrup, Janne P. ; Albiñana, Clara ; Grove, Jakob ; Mortensen, Preben B. ; Kamperis, Konstantinos

Purpose:Childhood incontinence is stigmatized and underprioritized, and a basic understanding of its pathogenesis is missing. Our goal was to identify risk-conferring genetic variants in daytime urinary incontinence (DUI).Materials and Methods:We conducted a genome-wide association study in the Danish iPSYCH2015 cohort. Cases (3024) were identified through DUI diagnosis codes and redeemed prescriptions for DUI medication in individuals aged 5 to 20 years. Controls (30,240), selected from the same sample, were matched to cases on sex and psychiatric diagnoses, if any, and down-sampled to a 1:10 case:control ratio. Replication was performed in the Icelandic deCODE cohort (5475 cases/287,773 controls). Single-nucleotide polymorphism heritability was calculated using the genome-based restricted maximum likelihood method. Cross-trait genetic correlation was estimated using linkage disequilibrium score regression. Polygenic risk scores generated with LDpred2-auto and BOLT-LMM were assessed for association.Results:Variants on chromosome 6 (rs12210989, odds ratio [OR] 1.24, 95% CI 1.17-1.32, P = 3.21 × 10−12) and 20 (rs4809801, OR 1.18, 95% CI 1.11-1.25, P = 3.66 × 10−8) reached genome-wide significance and implicated the PRDM13 and RIPOR3 genes. Chromosome 6 findings were replicated (P = .024, OR 1.09, 95% CI 1.01-1.16). Liability scale heritability ranged from 10.20% (95% CI 6.40%-14.00%) to 15.30% (95% CI 9.66%-20.94%). DUI and nocturnal enuresis showed positive genetic correlation (r g = 1.28 ± 0.38, P = .0007). DUI was associated with attention-deficit/hyperactivity disorder (OR 1.098, 95% CI 1.046-1.152, P < .0001) and BMI (OR 1.129, 95% CI 1.081-1.178, P < .0001) polygenic risk.Conclusions:Common genetic variants contribute to the risk of childhood DUI, and genes important in neuronal development and detrusor smooth muscle activity were implicated. These findings may help guide identification of new treatment targets.

01 Jan 2024·Molecular vision

Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea.

Article

Author: Cherry, Timothy J ; Seo, Yuri ; Small, Kent W ; Lee, Junwon ; Bujakowska, Kinga M ; Jang, Sohyun ; Joo, Kwangsic ; Han, Jinu ; Woo, Se Joon ; Diaz, Amber

PurposePathogenic variants in North Carolina macular dystrophy (NCMD) have rarely been reported in the East Asian population. Herein, we reported novel variants of NCMD in 2 Korean families.MethodsThe regions associated with NCMD were analyzed with genome sequencing, and variants were filtered based on the minor allele frequency (0.5%) and heterozygosity. Non-coding variants were functionally annotated using multiple computational tools.ResultsWe identified two rare novel variants, chr6:g.99,598,914T>C (hg38; V17) and chr6:g.99,598,926G>A (hg38; V18) upstream of PRDM13 in families A and B, respectively. In Family 1, Grade 2 NCMD and a best-corrected visual acuity of 20/25 and 20/200 in the right and left eyes, respectively, were observed. In Family B, all affected individuals had Grade 1 NCMD with characteristic confluent drusen at the fovea and a best-corrected visual acuity of 20/20 in both eyes. These two variants are 10-22 bp downstream of the reported V10 variant within the DNase1 hypersensitivity site. This site is associated with progressive bifocal chorioretinal atrophy and congenital posterior polar chorioretinal hypertrophy and lies in the putative enhancer site of PRDM13.ConclusionWe identified two novel NCMD variants in the Korean population and further validated the regulatory role of the DNase1 hypersensitivity site upstream of PRDM13.

01 Jan 2024·Molecular vision

A novel PRDM13 gene duplication causing congenital North Carolina macular dystrophy phenotype in a Mexican family.

Article

Author: Garcia-Martinez, Froylan ; Arce-González, Rocío ; Montes-Almanza, Luis ; Shaya, Fadi ; Udar, Nitin ; Fest-Parra, Scarlett ; Udar, Uma ; Molina-Garay, Carolina ; Flores-Lagunes, Luis Leonardo ; Matsui-Serrano, Rodrigo ; Martínez-Aguilar, Alan ; Chacon-Camacho, Oscar Francisco ; Diaz, Amber ; Small, Kent W ; Gudiño, Adriana ; Zenteno, Juan Carlos ; Alaez-Verson, Carmen

PurposeNorth Carolina macular dystrophy (NCMD) is a rare autosomal dominantly inherited congenital maculopathy caused by either non-coding point mutations or tandem duplications in the DNase I hypersensitivity site DHS6S1, at chromosome 6q16 (MCDR1), or at chromosome 5 (MCDR3). To date, at least 30 NCMD pedigrees from different ethnicities have been genetically identified worldwide. Herein, we report the clinical and genetic features of a newly found NCMD family in Mexico with a novel tandem duplication involving both the DNASE1 site and the PRDM13 gene.MethodsSeven affected subjects from a Mexican family underwent a complete ophthalmic assessment that included dilated indirect ophthalmoscopy, fundus photography, optical coherence tomography (OCT), fundus autofluorescence (FAF), kinetic and chromatic perimetry, and electroretinography (ERG). Next-generation sequencing (NGS), followed by array-based comparative genomic hybridization (array-CGH) and quantitative polymerase chain reaction (qPCR) analyzes, were employed to demonstrate the causative molecular defect.ResultsAll seven affected patients had a severe appearing phenotype characterized by symmetric excavated atrophic coloboma-like chorioretinal macular lesions. In addition, using OCT, lacunae in the inner retinal layers and inner retinal loss were observed in all patients. NGS identified a heterozygous tandem duplication of the entire coding sequence of the PRDM13 gene in all seven affected individuals, whereas subsequent array CGH, NGS, and Sanger sequencing allowed for the identification of the precise boundaries of a ~148 kb MCDR1 duplication containing the whole PRMD13 gene and the DNASE1 site.ConclusionsThe phenotypic features in this NCMD pedigree continue to support the concept that this disorder is a congenital macular malformation rather than a progressive dystrophic entity. Unlike most NCMD families, there was no variable expressivity found in this study, possibly due to the relatively small size of the family. The other hypothesis is that the duplication involves genomic segments that are more consistently or tightly bound to other regulatory regions of PRDM13. The identification of a novel causative tandem duplication involving the DNASE1 site and the PRDM13 gene in this family allows for the expansion of the mutational spectrum of the disease.

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PRDM13

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