Choanal atresia

Gene: CTNND1

Green List (high evidence)

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). Chonal atresia was seen in 4 individuals from 3 families

Created: 25 Mar 2021, 10:22 a.m. | Last Modified: 25 Mar 2021, 10:22 a.m.

Panel Version: 0.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Blepharocheilodontic syndrome 2, MIM# 617681; MONDO:0040503

Publications

• 32196547