Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype–phenotype relationship
نویسندگان
چکیده
We report an otherwise healthy 32-year-old man with portal hypertension, variceal bleeding, and congenital hepatic fibrosis with ductal plate malformation. Genetic screening identified two TMEM67 mutations. Biallelic TMEM67 mutations are known to cause Joubert/Meckel syndrome or nephronopthisis with hepatic fibrosis, but have never been found in isolated hepatic fibrosis.
منابع مشابه
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
BACKGROUND Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Løken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis. METHODS To identify a cau...
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