DBQD2 XYLT1

Desbuquois dysplasia, which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification¹.

Prevalence

<1/1,000,000 births²; repeat expansions comprise half of DBQD variants³. <50 DBQD cases. Has been found in Belgian, Emirati families

Age of Onset Details

0 (birth)

Locus

hg19

chr16:17564764-17564779

hg38

chr16:17470907-17470922

t2t

chr16:17477909-17478002

Details

Benign range (0-20) taken from primary literatre of unaffected individuals and gnomAD data^4,5. Minimum repeat size to cause disease thought to range between 72 and 110 repeats⁴. Repeat is within a 238bp sequence which is missing from hg38 but present in T2T-CHM13

Mechanism

LoF

Methylation⁴.

Year

2019⁴

Location in Gene

Intron 1

Gene Strand

Alleles

Ref. Motif

GCC

Pathogenic (ref.)

GCC

Pathogenic (gene)

CGG

gnomAD

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

References

Direct supporting references for info on this page.

XYLT1 mutations in Desbuquois dysplasia type 2.

Catherine,Bui, Céline,Huber, Beyhan,Tuysuz, Yasemin,Alanay, Christine,Bole-Feysot, Jules G,Leroy, Geert,Mortier, Patrick,Nitschke, Arnold,Munnich, Valérie,Cormier-Daire

American journal of human genetics · 2014-02-27

pmid:24581741

Orphanet: Desbuquois syndrome

orphanet:1425

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

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

Amy J,LaCroix, Deborah,Stabley, Rebecca,Sahraoui, Margaret P,Adam, Michele,Mehaffey, Kelly,Kernan, Candace T,Myers, Carrie,Fagerstrom, George,Anadiotis, Yassmine M,Akkari, Katherine M,Robbins, Karen W,Gripp, Wagner A R,Baratela, Michael B,Bober, Angela L,Duker, Dan,Doherty, Jennifer C,Dempsey, Daniel G,Miller, Martin,Kircher, Michael J,Bamshad, Deborah A,Nickerson, Heather C,Mefford, Katia,Sol-Church

American journal of human genetics · 2018-12-13

pmid:30554721

gnomAD

gnomad:XYLT1

Additional Literature

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