Ectodermal Dysplasia

Gene: CTNND1

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.

Created: 1 Sep 2020, 11:57 p.m. | Last Modified: 1 Sep 2020, 11:57 p.m.

Panel Version: 0.4112

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Blepharocheilodontic syndrome 2, MIM# 617681

Publications

• 28301459

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).

Created: 1 Sep 2020, 5:16 p.m. | Last Modified: 1 Sep 2020, 5:26 p.m.

Panel Version: 0.4091

Publications

• 32196547

Green List (high evidence)

Ectodermal dysplasia is a feature of the condition. Four cases from three unrelated families.
Sources: Expert list

Created: 10 Mar 2020, 9:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Blepharocheilodontic syndrome 2 MIM#617681

Publications

• 28301459