Two independent families with de novo whole APC gene deletion and intellectual disability: a case report.

Background: Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports of patients with both FAP and intellectual disability (ID) have described deletions in all or part of chromosome 5q, including the APC locus.

Adenomatous Polyposis Coli Gene Mutations, Risk Factors, and Long-term Outcomes Associated With Desmoid Tumors in Patients With Familial Adenomatous Polyposis After Colectomy in Japan.

Goals: To clarify the characteristics of desmoid tumors in Japanese patients with familial adenomatous polyposis after colectomy.

Background: Few comprehensive reports have been published on desmoid tumors in Asian patients with familial adenomatous polyposis.

Study: This retrospective study included the data of 81 patients with familial adenomatous polyposis who underwent surgery between 1978 and 2021.

Effect of past extensive ulcers on fecal calprotectin in ulcerative colitis.

Background: Ulcerative colitis (UC) causes extensive ulceration attributable to intestinal inflammation. This study investigated the effect of past extensive ulcers (PEUs) on fecal calprotectin (FC).

Methods: This retrospective, single-center, observational study included patients with UC with a Mayo endoscopic subscore of 0.

Case of familial interstitial lung disease attributed to ATP-binding cassette transporter 3 gene mutation in identical twins.

Mutations in ABCA3 can result in surfactant deficiency, leading to respiratory distress syndrome in term neonates, and interstitial lung disease (ILD) in children. Here, we report an extremely rare case of ILD in an identical twin with novel ABCA3 germline mutations. Interestingly, they showed mostly similar, but slightly different, clinical features.