VACTERLX ZIC3

VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies¹.

Prevalence

Found in one patient²with European ancestry³.

Age of Onset Details

Locus

hg19

chrX:136648985-136649015

hg38

chrX:137566826-137566856

t2t

chrX:135876774-135876800

Details

Frequently genotyped as (NGC)*, although locus structure has been reported as (GCC)8(GCT)(GCC)⁴. 1 patient with VACTERL died at birth with 12 repeats³. 8 patients with X-linked oculo-auriculo-vertebral spectrum (OAVS) had 11 repeats (intermediate allele size); 1 individual in OAVS cohort with 12 repeats; likely phenotypic spectrum⁵.

Mechanism

Unknown

Polyalanine expansion with unknown mechanism⁶.

Year

2010³

Location in Gene

Exon 1

Gene Strand

Alleles

Ref. Motif

GCN

Pathogenic (ref.)

GCN

Pathogenic (gene)

CNG

gnomAD

Sex

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

References

Direct supporting references for info on this page.

omim:314390

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

Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?

Marja W,Wessels, Brian,Kuchinka, Rogier,Heydanus, Bert J,Smit, Dennis,Dooijes, Ronald R,de Krijger, Maarten H,Lequin, Elisabeth M,de Jong, Margreet,Husen, Patrick J,Willems, Brett,Casey

Journal of medical genetics · 2010-05-01

pmid:20452998

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Nature reviews. Genetics · 2024-03-11

pmid:38467784

Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.

Aurélien,Trimouille, Angèle,Tingaud-Sequeira, Didier,Lacombe, Tina,Duelund Hjortshøj, Sven,Kreiborg, Hanne,Buciek Hove, Caroline,Rooryck

Clinical genetics · 2020-10-01

pmid:32639022

Expandable DNA repeats and human disease.

Sergei M,Mirkin

Nature · 2007-06-21

pmid:17581576

Additional Literature

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)