Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Abnormalities, Multiple
/ genetics
Amino Acid Sequence
Cadherins
/ genetics
Cell Adhesion
/ genetics
Cell Movement
/ genetics
Craniofacial Abnormalities
/ genetics
Female
Foot Deformities, Congenital
/ genetics
Genetic Variation
/ genetics
Hand Deformities, Congenital
/ genetics
Heterozygote
Homozygote
Humans
Hypertelorism
/ genetics
Male
Pedigree
Phenotype
Journal
Human genetics
ISSN: 1432-1203
Titre abrégé: Hum Genet
Pays: Germany
ID NLM: 7613873
Informations de publication
Date de publication:
Jul 2021
Jul 2021
Historique:
received:
30
11
2020
accepted:
04
03
2021
pubmed:
4
4
2021
medline:
23
6
2021
entrez:
3
4
2021
Statut:
ppublish
Résumé
Teebi hypertelorism syndrome (THS; OMIM 145420) is a rare craniofacial disorder characterized by hypertelorism, prominent forehead, short nose with broad or depressed nasal root. Some cases of THS have been attributed to SPECC1L variants. Homozygous variants in CDH11 truncating the transmembrane and intracellular domains have been implicated in Elsahy-Waters syndrome (EWS; OMIM 211380) with hypertelorism. We report THS due to CDH11 heterozygous missense variants on 19 subjects from 9 families. All affected residues in the extracellular region of Cadherin-11 (CHD11) are highly conserved across vertebrate species and classical cadherins. Six of the variants that cluster around the EC2-EC3 and EC3-EC4 linker regions are predicted to affect Ca
Identifiants
pubmed: 33811546
doi: 10.1007/s00439-021-02274-3
pii: 10.1007/s00439-021-02274-3
pmc: PMC9245547
mid: NIHMS1809984
doi:
Substances chimiques
Cadherins
0
osteoblast cadherin
156621-71-5
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1061-1076Subventions
Organisme : NCATS NIH HHS
ID : KL2 TR001879
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM008638
Pays : United States
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