TY  - JOUR
A1  - Ballin, Nadja
A1  - Hotz, Alrun
A1  - Bourrat, Emmanuelle
A1  - Küsel, Julia
A1  - Oji, Vinzenz
A1  - Bouadjar, Bakar
A1  - Brognoli, Davide
A1  - Hickman, Geoffroy
A1  - Heinz, Lisa
A1  - Vabres, Pierre
A1  - Marrakchi, Slaheddine
A1  - Leclerc‐Mercier, Stéphanie
A1  - Irvine, Alan
A1  - Tadini, Gianluca
A1  - Hamm, Henning
A1  - Has, Cristina
A1  - Blume‐Peytavi, Ulrike
A1  - Mitter, Diana
A1  - Reitenbach, Marina
A1  - Hausser, Ingrid
A1  - Zimmer, Andreas D.
A1  - Alter, Svenja
A1  - Fischer, Judith
T1  - Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
JF  - Human Mutation
N2  - Autosomal recessive congenital ichthyosis (ARCI) belongs to a heterogeneous group of disorders of keratinization. To date, 10 genes have been identified to be causative for ARCI. NIPAL4 (Nipa‐Like Domain‐Containing 4) is the second most commonly mutated gene in ARCI. In this study, we present a large cohort of 101 families affected with ARCI carrying mutations in NIPAL4. We identified 16 novel mutations and increase the total number of pathogenic mutations in NIPAL4 to 34. Ultrastructural analysis of biopsies from six patients showed morphological abnormalities consistent with an ARCI EM type III. One patient with a homozygous splice site mutation, which leads to a loss of NIPAL4 mRNA, showed additional ultrastructural aberrations together with a more severe clinical phenotype. Our study gives insights into the frequency of mutations, a potential hot spot for mutations, and genotype–phenotype correlations.
KW  - ARCI
KW  - ARCI EM type III
KW  - collodion baby
KW  - ichthyosis
KW  - NIPAL4
Y1  - 2019
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-212747
VL  - 40
IS  - 12
ER  -