Monogenic hearing loss

Gene: TGFB2

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#614816:Loeys-Dietz syndrome 4[Retrognathia; Hypertelorism (in some patients)Downslanting palpebral fissures (in some patients); High-arched palateBroad or bifid uvula (in some patients); Mitral valve prolapseBicuspid aortic valve (rare); Aortic root aneurysmAortic dissectionArterial tortuosityCerebrovascular aneurysm (in some patients)Fusiform dilation and tortuosity of cerebrovascular arteries; Emphysema (rare)Pneumothorax (rare); Pectus deformity; Inguinal hernia; Inguinal hernia; Tall statureJoint hyperflexibility; ScoliosisSpondylolisthesis (rare); Protrusio acetabularis; Wrist sign; ArachnodactylySteinberg thumb sign; Flat feetClub feet (in some patients); Skin striaeEasy bruising; Dural ectasia]

Publications

• PMID:12506096
• 14691167
• 17325163
• 17502504
• 1970330
• 22772368
• 22772371
• 3162414
• 3226728
• 3277172
• 3322813
• 3476488
• 8095486
• 9217007