|
Congenital ichthyosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The patient's phenotype was elucidated by the combination of a germline mutation and an acquired postzygotic mutation in ABCA12, resulting in the diagnosis of a mosaic manifestation of autosomal recessive congenital ichthyosis.
|
31206590 |
2020 |
|
Congenital ichthyosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCA12 gene are known to cause ichthyosis fetalis in cattle and Harlequin ichthyosis in humans.
|
31568573 |
2019 |
|
Congenital ichthyosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive congenital ichthyosis (ARCI4B [OMIM #242500]), also known as harlequin ichthyosis, presents at birth with extreme hyperkeratosis and thick-fissured plaques, leading to tightness of the skin around the eyes, mouth, ears, chest, abdomen, and extremities.
|
31586585 |
2019 |
|
Congenital ichthyosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Using whole exome sequencing, we identified in a child with congenital exfoliative erythroderma, hypotrichosis, severe nail dystrophy and failure to thrive, two heterozygous mutations in ABCA12 (c.2956C>T, p.R986W; c.5778+2T>C, p. G1900Mfs*16), a gene known to be associated with two forms of ichthyosis, autosomal recessive congenital ichthyosis, and harlequin ichthyosis.
|
27769845 |
2017 |
|
Congenital ichthyosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We applied genomic capture and massively parallel sequencing to detect all mutations in 20 genes, including ABCA12, with inherited mutations that predispose to congenital ichthyosis.
|
27381714 |
2016 |
|
Congenital ichthyosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.
|
27061915 |
2016 |
|
Congenital ichthyosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identification of the key promoter element of ABCA12 in this study may provide relevant information for genetic diagnosis of recessive congenital ichthyosis.
|
25338618 |
2014 |
|
Congenital ichthyosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
ABCA12 mutations result in defective lipid transport via lamellar granules in the keratinocytes, leading to ichthyosis phenotypes from malformation of the stratum corneum lipid barrier.
|
23954554 |
2014 |
|
Congenital ichthyosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel ABCA-12 mutations leading to recessive congenital ichthyosis.
|
22299640 |
2014 |
|
Congenital ichthyosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The samples were initially genotyped to screen known loci linked to recessive ichthyosis on chromosomes 2q33-32 (ABCA12), 14q11 (TGM1), and 19p12-q12 using commercially supplied polymorphic fluorescent microsatellite markers.
|
23689228 |
2013 |
|
Congenital ichthyosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The combined results support that an ABCA12 missense mutation, despite its location in a functional domain, may be associated with a mild ichthyosis phenotype.
|
22257947 |
2012 |
|
Congenital ichthyosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis.
|
21816950 |
2011 |
|
Congenital ichthyosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.
|
20672373 |
2010 |
|
Congenital ichthyosis
|
0.400 |
Biomarker
|
disease |
CTD_human |
No de novo mutation in ABCA12 has yet been reported either in HI or lamellar ichthyosis.
|
16675967 |
2006 |
|
Congenital ichthyosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
ABCA3 is involved in lipid secretion via LGs from alveolar type II cells, and missense mutations in ABCA12 have been reported to cause lamellar ichthyosis type 2, a milder form of ichthyosis.
|
16007253 |
2005 |