Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.
CLDN1
NISCH syndrome
ichthyosis
neurodevelopmental
sclerosing cholangitis
Journal
Pediatric dermatology
ISSN: 1525-1470
Titre abrégé: Pediatr Dermatol
Pays: United States
ID NLM: 8406799
Informations de publication
Date de publication:
Jul 2022
Jul 2022
Historique:
revised:
12
02
2022
received:
31
10
2021
accepted:
27
02
2022
pubmed:
20
3
2022
medline:
27
8
2022
entrez:
19
3
2022
Statut:
ppublish
Résumé
Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome is an extremely rare entity with only 19 patients described in the literature. We report an extended family with the disorder and investigate the association of neurodevelopmental symptoms. Patients with CLDN1 mutations, and specifically « the Moroccan» c.200_201delTT deletion, may be an increased risk for neurodevelopmental symptoms such as learning disabilities, mental retardation, and language delay.
Substances chimiques
Claudin-1
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
590-593Subventions
Organisme : The Belgian Kids' Fund for Pediatric Research
Informations de copyright
© 2022 Wiley Periodicals LLC.
Références
Nagtzaam IF, van Geel M, Driessen A, et al. Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype. Br J Dermatol. 2010;163(1):205-207. (PMID: 20645982).
Baala L, Hadj-Rabia S, Hamel-Teillac D, et al. Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28. J Invest Dermatol. 2002;119(1):70-76. (PMID: 12164927).
Hadj-Rabia S, Baala L, Vabres P, et al. Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology. 2004;127(5):1386-1390. (PMID: 15521008).
Feldmeyer L, Huber M, Fellmann F, et al. Confirmation of the origin of NISCH syndrome. Hum Mutat. 2006;27(5):408-410. (PMID: 16619213).
Kirchmeier P, Sayar E, Hotz A, et al. Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome. Br J Dermatol. 2014;170(4):976-978. (PMID: 24641442).
Youssefian L, Vahidnezhad H, Saeidian AH, et al. Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome. Am J Gastroenterol. 2017;112(2):396-398. (PMID: 28154377).
Nagtzaam IF, Peeters VPM, Vreeburg M, et al. Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing cholangitis syndrome without signs of liver disease. Br J Dermatol. 2018;178(3):e202-e203. (PMID: 28906553).
Szepetowski S, Lacoste C, Mallet S, et al. NISCH syndrome, a rare cause of neonatal cholestasis: a case report. Arch Pediatr Organe off Soc Francaise Pediatr. 2017;24(12):1228-1234. (PMID: 29146216).
Paganelli M, Stephenne X, Gilis A, et al. Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency. J Pediatr Gastroenterol Nutr. 2011;53(3):350-354. (PMID : 21865982).
Grosse B, Cassio D, Yousef N, et al. Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability. Hepatol Baltim Md. 2012;55(4):1249-1259. (PMID : 22030598).
Sweeney MD, Sagare AP, Zlokovic BV. Blood-brain barrier breakdown in Alzheimer disease and other neurodegenerative disorders. Nat Rev Neurol. 2018;14(3):133-150. (PMID: 29377008).
Greene C, Hanley N, Campbell M. Blood-brain barrier associated tight junction disruption is a hallmark feature of major psychiatric disorders. Transl Psychiatry. 2020;10(1):373. (PMID: 33139732).
Izurieta Pacheco AC, Monfort Carretero L, Prat Torres C, García-Alix Pérez A, Molera BC. NISCH syndrome: an extremely rare cause of neonatal cholestasis. J Hepatol. 2020;73(5):1257-1258. (PMID: 32863047).