Fetal anomalies
Gene: CTNND1

CTNND1 (catenin delta 1)
EnsemblGeneIds (GRCh38): ENSG00000198561
EnsemblGeneIds (GRCh37): ENSG00000198561
OMIM: 601045, Gene2Phenotype
CTNND1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

4 individuals from 3 unrelated families with blepharocheilodontic syndrome and mutations in the CTNND1 gene reported originally in PMID 28301459. All had eyelid anomalies, including ectropion of the lower lids, euryblepharon, lagophthalmia, and distichiasis. In addition, all 4 showed typical facial dysmorphism with hypertelorism, flat face, and high forehead, and all had conical teeth and tooth agenesis. Three had cleft lip and palate, 3 had hair anomalies, and 1 had hypothyroidism due to hypoplasia or aplasia of the thyroid gland. None of the patients exhibited anal atresia or neural tube defects.

PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. 8/13 patients showed cleft palate. Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).

This more recent publication suggests a broader phenotype associated with CTNND1 variants including dev delay, ADHD/ASD, behavioural issues.
Sources: Literature
Created: 2 Sep 2020, 12:08 a.m. | Last Modified: 19 Dec 2021, 7:29 a.m.

Panel Version: 0.1423

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Blepharocheilodontic syndrome 2, MIM# 617681

Publications

Created: 2 Sep 2020, 12:08 a.m.
Last Modified: 19 Dec 2021, 7:29 a.m.
Panel version: 0.1423

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Genomics England PanelApp
Literature

Phenotypes

Blepharocheilodontic syndrome 2, MIM# 617681

OMIM

601045

Clinvar variants

Variants in CTNND1

Penetrance

None

Publications

Panels with this gene