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 and Emirati families.

Age of Onset

0 (birth)

HPO Terms

HP:0000175 Cleft palate HP:0000193 Bifid uvula HP:0000252 Microcephaly HP:0000280 Coarse facial features HP:0000286 Epicanthus HP:0000311 Round face HP:0000343 Long philtrum HP:0000470 Short neck HP:0000520 Proptosis HP:0000592 Blue sclerae HP:0000664 Synophrys HP:0000668 Hypodontia HP:0000678 Dental crowding HP:0000750 Delayed speech and language development HP:0000767 Pectus excavatum HP:0000768 Pectus carinatum HP:0000774 Narrow chest HP:0000894 Short clavicles HP:0000926 Platyspondyly HP:0000954 Single transverse palmar crease HP:0001249 Intellectual disability HP:0001252 Hypotonia HP:0001263 Global developmental delay HP:0001382 Joint hypermobility HP:0001511 Intrauterine growth retardation HP:0001763 Pes planus HP:0001769 Broad foot HP:0001840 Metatarsus adductus HP:0001863 Toe clinodactyly HP:0001956 Truncal obesity HP:0002643 Neonatal respiratory distress HP:0002656 Epiphyseal dysplasia HP:0002673 Coxa valga HP:0002827 Hip dislocation HP:0002938 Lumbar hyperlordosis HP:0002970 Genu varum HP:0003016 Metaphyseal widening HP:0003026 Short long bone HP:0003048 Radial head subluxation HP:0003180 Flat acetabular roof HP:0003510 Severe short stature HP:0004233 Advanced ossification of carpal bones HP:0004482 Relative macrocephaly HP:0004976 Knee dislocation HP:0005280 Depressed nasal bridge HP:0008897 Postnatal growth retardation HP:0009803 Short phalanx of finger HP:0010049 Short metacarpal HP:0011304 Broad thumb HP:0012368 Flat face HP:0012725 Cutaneous syndactyly HP:0031936 Delayed ability to walk HP:0033102 Monkey wrench femoral neck HP:6000816 Prominent lesser trochanter

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 intronic depending on the reference, due to missing sequences in some reference genomes.

Gene Strand

Alleles

Ref. Motif

CCG

Ranges

Benign (ref.)

–

Benign (gene)

–

Pathogenic (ref.)

CCG

Pathogen. (gene)

CGG

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

–

Interrup. (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)