CATSHL syndrome, a new family and phenotypic expansion.
CATSHL syndrome
FGFR3
LADD syndrome
camptodactyly
deafness
overgrowth
scoliosis
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
22 Nov 2023
22 Nov 2023
Historique:
revised:
06
11
2023
received:
14
09
2023
accepted:
08
11
2023
medline:
22
11
2023
pubmed:
22
11
2023
entrez:
22
11
2023
Statut:
aheadofprint
Résumé
We report the case of a 12-year-old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and juvenile-onset hearing loss. The CATSHL (CAmptodactyly - Tall stature - Scoliosis - Hearing Loss syndrome) syndrome was suspected, and molecular analysis revealed a hitherto unreported, monoallelic variant c.1861C>T (p.Arg621Cys) in FGFR3. This variant affects the same residue, but is different than, the variant p.Arg621His reported in the two families with dominant CATSHL described so far. Interestingly, peg-shaped incisors were observed in the proband, a feature never reported in CATSHL but typical of another FGFR3-related condition, LADD (Lacrimo - Auricolo - Dento - Digital) syndrome. The FGFR3 p.Arg621Cys variant seems to be a newly identified cause of CATSHL syndrome with some phenotypic overlap with the LADD syndrome.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
Références
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