Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
نویسندگان
چکیده
منابع مشابه
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.
We report the identification of mutations in a non-syndromic autosomal recessive congenital ichthyosis (ARCI) in a new gene mapping within a previously identified locus on chromosome 19p12-q12, which has been defined as LI3 in the OMIM database (MIM 604777). The phenotype usually presents as lamellar ichthyosis and hyperlinearity of palms and soles. Seven homozygous mutations including five mis...
متن کاملTransglutaminase-1 Mutations in Omani Families with Lamellar Ichthyosis
OBJECTIVE To determine the molecular basis of familial ichthyosis in three Omani families. SUBJECTS AND METHODS Nine patients from three consanguineous families, A, B, and C, were born with typical features of lamellar ichthyosis subtype including collodion membrane and maintained ectropion, and epidermal scaling through their childhood. The 4 patients from family B had more severe symptoms r...
متن کاملMutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.
Lamellar ichthyosis type 2 (LI2) is a rare autosomal recessive skin disorder for which a gene has been localized on chromosome 2q33-35. We report the identification of five missense mutations in the ABCA12 gene in nine families from Africa affected by LI2. The mutations were homozygous in eight consanguineous families and heterozygous in one non-consanguineous family. Four of these mutations ar...
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Background: Cytochrome P450 2C19 (CYP2C19) is widely involved in the metabolism of some medications. On the other hand, recent studies have shown the contribution of the CYP2C19 polymorphisms to different malignancies. We aimed to investigate the association between CYP2C19 polymorphism and occurrence of hematological malignancies by comparing the phenotype distribution of this enzyme in patien...
متن کاملLamellar Ichthyosis with Rickets
Lamellar ichthyosis (LI) is a rare genetic disorder with autosomal recessive inheritance. It is equally seen in both sexes and usually manifests at birth. The child presents as a collodion baby. The erythema is minimal or absent; but when present, it is maximum on the face. The scaling is generalized, accentuated on lower extremities and flexural areas. Rickets is a condition in which there is ...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2006
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddi491