HSAN-VIII PRDM12

A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34¹.

Prevalence

Expansions found in 2 families from Pakistan and Saudi Arabia². All PRDM12 disease mutations < 1/1,000,000

Age of Onset Details

0 (birth)

Locus

hg19

chr9:133556992-133557028

hg38

chr9:130681605-130681641

t2t

chr9:142886568-142886595

Details

Pathogenic expansion found in 2 families, from whom pathogenic range (18-19) is inferred². Benign range (7-14) inferred from Human Gene Mutation Database³.

Mechanism

LoF

Mutations abrogate the histone-modifying potential of PRDM12, consistent with a loss of function mechanism⁴.

Year

2015²

Location in Gene

Coding Exon 5

Gene Strand

Alleles

Ref. Motif

GCC

Pathogenic (ref.)

GCC

Pathogenic (gene)

CCG

gnomAD

Pathogenic Genotype (%): % of individuals predicted to be affected based on their genotype

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0014662

Transcriptional regulator PRDM12 is essential for human pain perception.

Ya-Chun,Chen, Michaela,Auer-Grumbach, Shinya,Matsukawa, Manuela,Zitzelsberger, Andreas C,Themistocleous, Tim M,Strom, Chrysanthi,Samara, Adrian W,Moore, Lily Ting-Yin,Cho, Gareth T,Young, Caecilia,Weiss, Maria,Schabhüttl, Rolf,Stucka, Annina B,Schmid, Yesim,Parman, Luitgard,Graul-Neumann, Wolfram,Heinritz, Eberhard,Passarge, Rosemarie M,Watson, Jens Michael,Hertz, Ute,Moog, Manuela,Baumgartner, Enza Maria,Valente, Diego,Pereira, Carlos M,Restrepo, Istvan,Katona, Marina,Dusl, Claudia,Stendel, Thomas,Wieland, Fay,Stafford, Frank,Reimann, Katja,von Au, Christian,Finke, Patrick J,Willems, Michael S,Nahorski, Samiha S,Shaikh, Ofélia P,Carvalho, Adeline K,Nicholas, Gulshan,Karbani, Maeve A,McAleer, Maria Roberta,Cilio, John C,McHugh, Sinead M,Murphy, Alan D,Irvine, Uffe Birk,Jensen, Reinhard,Windhager, Joachim,Weis, Carsten,Bergmann, Bernd,Rautenstrauss, Jonathan,Baets, Peter,De Jonghe, Mary M,Reilly, Regina,Kropatsch, Ingo,Kurth, Roman,Chrast, Tatsuo,Michiue, David L H,Bennett, C Geoffrey,Woods, Jan,Senderek

Nature genetics · 2015-05-25

pmid:26005867

Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions

Stephanie E.,Wallace, Lora JH,Bean

GeneReviews® [Internet] · 2022-10-20

genereviews:NBK535148

omim:616488