Cunha, Dulce Lima, Alakloby, Omar Mohammed, Gruber, Robert, Kakar, Naseebullah, Ahmad, Jamil, Alawbathani, Salem, Plank, Roswitha, Eckl, Katja, Krabichler, Birgit, Altmueller, Janine, Nuernberg, Peter, Zschocke, Johannes, Borck, Guntram, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Alabdulkareem, Adnan S., Alnutaifi, Kholood Abdulaziz and Hennies, Hans Christian (2019). Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. Mol. Genet. Genom. Med., 7 (3). HOBOKEN: WILEY. ISSN 2324-9269

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Abstract

Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified, but a clear correlation between genetic causes and clinical picture has not been described to date. Methods Our study included 19 families from Saudi Arabia, Yemen, and Pakistan. All patients were born to consanguineous parents and diagnosed with ARCI. Mutations were analyzed by homozygosity mapping and direct sequencing. Results We have detected mutations in all families in five different genes: TGM1, ABCA12, CYP4F22, NIPAL4, and ALOXE3. Five likely pathogenic variants were unknown so far, a splice site and a missense variant in TGM1, a splice site variant in NIPAL4, and missense variants in ABCA12 and CYP4F22. We attributed TGM1 and ABCA12 mutations to the most severe forms of lamellar and erythematous ichthyoses, respectively, regardless of treatment. Other mutations highlighted the presence of a phenotypic spectrum in ARCI. Conclusion Our results contribute to expanding the mutational spectrum of ARCI and revealed new insights into genotype/phenotype correlations. The findings are instrumental for a faster and more precise diagnosis, a better understanding of the pathophysiology, and the definition of targets for more specific therapies for ARCI.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Cunha, Dulce LimaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alakloby, Omar MohammedUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gruber, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kakar, NaseebullahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ahmad, JamilUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alawbathani, SalemUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Plank, RoswithaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eckl, KatjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Krabichler, BirgitUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Altmueller, JanineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zschocke, JohannesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Borck, GuntramUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmuth, MatthiasUNSPECIFIEDorcid.org/0000-0002-4064-1334UNSPECIFIED
Alabdulkareem, Adnan S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alnutaifi, Kholood AbdulazizUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hennies, Hans ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-155367
DOI: 10.1002/mgg3.539
Journal or Publication Title: Mol. Genet. Genom. Med.
Volume: 7
Number: 3
Date: 2019
Publisher: WILEY
Place of Publication: HOBOKEN
ISSN: 2324-9269
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
HEALING COLLODION BABY; TRANSGLUTAMINASE-1 GENE; RECURRENT MUTATIONS; TRANSPORTER ABCA12; VARIANTS; ALOXE3; TGM1; SPECTRUM; DATABASE; ALOX12BMultiple languages
Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/15536

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