Bikrant Bihari Lal, Seema Alam, Anupam Sibal, Karunesh Kumar, Somashekara Hosaagrahara Ramakrishna, Vaibhav Shah, Nirmala Dheivamani, Ashish Bavdekar, Aabha Nagral, Nishant Wadhwa, Arjun Maria, Aashay Shah, Ira Shah, Zahabiya Nalwalla, Pandey Snehavardhan, K P Srikanth, Subhash Gupta, Viswanathan M Sivaramakrishnan, Yogesh Waikar, Arya Suchismita, A Ashritha, Vikrant Sood, Rajeev Khanna
OBJECTIVES: The study aimed to describe the clinical course, outcomes, and analyze genotype-phenotype correlation in patients with tight junction protein 2 (TJP2) deficiency. METHODS: Data from all children with chronic cholestasis and either homozygous or compound heterozygous mutations in TJP2 were extracted and analyzed. The patients were categorized into three genotypes: TJP2-A (missense mutations on both alleles), TJP2-B (missense mutation on one allele and a predicted protein-truncating mutation (PPTM) on the other), and TJP2-C (PPTMs on both alleles)...
March 6, 2024: Hepatology: Official Journal of the American Association for the Study of Liver Diseases