DPF2-related Coffin-Siris syndrome type 7 in two generations.
Eur J Med Genet
; 69: 104945, 2024 Jun.
Article
en En
| MEDLINE
| ID: mdl-38697389
ABSTRACT
To date 11 patients with Coffin-Siris syndrome type 7 (OMIM 618027) have been described since the first literature report. All reported patients carried de novo variants with presumed dominant negative effect, which localized in the PHD1/PHD2 domains of DPF2. Here we report on the first familial case of Coffin-Siris syndrome type 7. The index patient presented during the 1st year of life with failure to thrive and ectodermal anomalies. The genetic analysis using whole exome sequencing showed a likely pathogenic missense variant in the PHD1 region. The family analysis showed that the mother as well as the older brother of the index patient also carried the detected DPF2 variant in heterozygous state. The mother had a history of school difficulties but no history of failure to thrive and was overall mildly affected. The brother showed developmental delay with autistic features, ectodermal anomalies and overlapping morphologic features but did not have a history of growth failure problems. To our knowledge this is the first report of an inherited likely pathogenic variant in DPF2, underlining the variability of the associated phenotype as well as the importance of considering inherited DPF2 variants during the variant filtering strategy of whole exome data.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Linaje
/
Factores de Transcripción
/
Anomalías Múltiples
/
Deformidades Congénitas de la Mano
/
Cara
/
Discapacidad Intelectual
/
Micrognatismo
/
Cuello
Límite:
Adult
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2024
Tipo del documento:
Article
Pais de publicación:
Países Bajos