Mosaicism in Hartsfield syndrome.
Eur J Med Genet
; 65(5): 104491, 2022 May.
Article
in En
| MEDLINE
| ID: mdl-35338003
ABSTRACT
Hartsfield syndrome is a rare condition characterised by the co-occurrence of ectrodactyly and holoprosencephaly spectrum disorders; cleft lip and palate is a common associated feature. This is due to either monoallelic, or less commonly, biallelic variants in FGFR1 with a loss of function or dominant negative effect. To date 37 individuals have been reported, including two instances of germline mosaicism. We report a further family with Hartsfield syndrome due to a novel variant in FGFR1, with two affected fetuses, and somatic and germline mosaicism in the father detected on Sanger sequencing. The father had not come to medical attention prior to this finding. In light of our findings and those in the published literature, we suggest that mosaicism, either germline or germline and somatic, may be a relatively frequent finding, affecting 3 of 35 (9%) reported families, which has important implications for genetic counselling.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Holoprosencephaly
/
Cleft Lip
/
Cleft Palate
Limits:
Humans
Language:
En
Journal:
Eur J Med Genet
Journal subject:
GENETICA MEDICA
Year:
2022
Document type:
Article