Locus 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

0 (birth)

HPO Terms

–

Association

Mendelian

Locus

hg19 chr16:17564764-17564779

hg38 chr16:17470907-17470922

t2t chr16:17477909-17478002

Details

Benign range (0-20) taken from primary literature 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.

Detection

Year

2019⁴

Location in Gene

5' promoter region. Note, it can also be annotated coding or introntic depending on the reference, due to missing sequences in some reference genomes.

Gene Strand

Alleles

Ref. Motif

GCC

Ranges

Benign (ref.)

–

Benign (gene)

–

Pathogenic (ref.)

GCC

Pathogenic (gene)

CGG

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

–

Interruption (gene)

–

gnomAD

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

Vérification de la connexion...

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

Additional literature related to this locus.

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