Pectus Excavatum Is Part of the Clinical Spectrum of HNF1B MODY5

HNF1B maturity-onset diabetes of the young (MODY) (previously named MODY5) is a syndrome due to heterozygous molecular anomalies of the hepatocyte nuclear factor (HNF)1B that may associate diabetes, morphological and functional abnormalities of the kidneys and of the pancreas, liver test anomalies, and genital tract malformations (1,2). MODY5 is due to HNF1B point mutations in half the cases, and is associated to a chromosome 17q12 deletion encompassing the HNF1B gene in the other half (3,4). Pectus excavatum (PE) is the most frequent anterior chest wall deformity. It has been described as an isolated anomaly or as part of many genetic syndromes, including monogenic diseases and chromosome …