STS基因的两个新型错义突变是X连锁隐性鱼鳞病的基础：对突变和结构谱的理解。 - Suppr

Two novel missense mutations of STS gene underlie X-linked recessive ichthyosis: understanding of the mutational and structural spectrum.

作者信息

Oyama N, Matsuda M, Hamada T, Numata S, Teye K, Hashimoto T, Hasegawa M

机构信息

Division of Dermatology and Dermato-Allergology, Matsuda General Hospital, Ohno, Fukui, 912-0026, Japan.

Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, 67 Asahimachi, Kurume, Fukuoka, 830-0011, Japan.

出版信息

J Eur Acad Dermatol Venereol. 2016 Sep;30(9):1629-31. doi: 10.1111/jdv.13231. Epub 2015 Sep 21.

DOI:10.1111/jdv.13231

PMID:26387488

Abstract

摘要

相似文献

Two novel missense mutations of STS gene underlie X-linked recessive ichthyosis: understanding of the mutational and structural spectrum.

J Eur Acad Dermatol Venereol. 2016 Sep;30(9):1629-31. doi: 10.1111/jdv.13231. Epub 2015 Sep 21.

Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population.

J Eur Acad Dermatol Venereol. 2010 Oct;24(10):1226-9. doi: 10.1111/j.1468-3083.2010.03612.x.

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis.

J Dermatol Sci. 2011 Jul;63(1):62-4. doi: 10.1016/j.jdermsci.2011.03.011. Epub 2011 Apr 7.

Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis.

J Dermatol Sci. 2015 Sep;79(3):317-9. doi: 10.1016/j.jdermsci.2015.07.001. Epub 2015 Jul 6.

A novel missense mutation of the STS gene in two siblings with X-linked ichthyosis, complicated by short stature, bone density reduction, epilepsy, and cryptorchidism.

Clin Exp Dermatol. 2019 Jan;44(1):78-79. doi: 10.1111/ced.13741. Epub 2018 Sep 16.

Detection of the STS gene in a family with X-linked recessive ichthyosis.

Indian J Dermatol Venereol Leprol. 2013 Mar-Apr;79(2):268. doi: 10.4103/0378-6323.107669.

CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT.

Genet Couns. 2016;27(1):25-33.

X-linked ichthyosis in a patient with a novel nonsense mutation in the STS gene.

J Dermatol Sci. 2015 Nov;80(2):160-2. doi: 10.1016/j.jdermsci.2015.09.004. Epub 2015 Sep 14.

Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations.

J Dermatol Sci. 2011 Dec;64(3):159-62. doi: 10.1016/j.jdermsci.2011.07.006. Epub 2011 Aug 27.

X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.

Dermatology. 2010;221(2):113-6. doi: 10.1159/000313507. Epub 2010 Jun 4.

引用本文的文献

A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.

BMC Med Genet. 2020 Jan 31;21(1):20. doi: 10.1186/s12881-020-0964-y.

Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report.

BMC Med Genet. 2018 Jul 18;19(1):120. doi: 10.1186/s12881-018-0642-5.

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Two novel missense mutations of STS gene underlie X-linked recessive ichthyosis: understanding of the mutational and structural spectrum.

作者信息

Oyama N, Matsuda M, Hamada T, Numata S, Teye K, Hashimoto T, Hasegawa M

机构信息

Division of Dermatology and Dermato-Allergology, Matsuda General Hospital, Ohno, Fukui, 912-0026, Japan.

Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, 67 Asahimachi, Kurume, Fukuoka, 830-0011, Japan.

出版信息

J Eur Acad Dermatol Venereol. 2016 Sep;30(9):1629-31. doi: 10.1111/jdv.13231. Epub 2015 Sep 21.

DOI:10.1111/jdv.13231

PMID:26387488

Abstract

摘要

相似文献

Two novel missense mutations of STS gene underlie X-linked recessive ichthyosis: understanding of the mutational and structural spectrum.

J Eur Acad Dermatol Venereol. 2016 Sep;30(9):1629-31. doi: 10.1111/jdv.13231. Epub 2015 Sep 21.

Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population.

J Eur Acad Dermatol Venereol. 2010 Oct;24(10):1226-9. doi: 10.1111/j.1468-3083.2010.03612.x.

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis.

J Dermatol Sci. 2011 Jul;63(1):62-4. doi: 10.1016/j.jdermsci.2011.03.011. Epub 2011 Apr 7.

Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis.

J Dermatol Sci. 2015 Sep;79(3):317-9. doi: 10.1016/j.jdermsci.2015.07.001. Epub 2015 Jul 6.

A novel missense mutation of the STS gene in two siblings with X-linked ichthyosis, complicated by short stature, bone density reduction, epilepsy, and cryptorchidism.

Clin Exp Dermatol. 2019 Jan;44(1):78-79. doi: 10.1111/ced.13741. Epub 2018 Sep 16.

Detection of the STS gene in a family with X-linked recessive ichthyosis.

Indian J Dermatol Venereol Leprol. 2013 Mar-Apr;79(2):268. doi: 10.4103/0378-6323.107669.

CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT.

Genet Couns. 2016;27(1):25-33.

X-linked ichthyosis in a patient with a novel nonsense mutation in the STS gene.

J Dermatol Sci. 2015 Nov;80(2):160-2. doi: 10.1016/j.jdermsci.2015.09.004. Epub 2015 Sep 14.

Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations.

J Dermatol Sci. 2011 Dec;64(3):159-62. doi: 10.1016/j.jdermsci.2011.07.006. Epub 2011 Aug 27.

X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.

Dermatology. 2010;221(2):113-6. doi: 10.1159/000313507. Epub 2010 Jun 4.

引用本文的文献

A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.

BMC Med Genet. 2020 Jan 31;21(1):20. doi: 10.1186/s12881-020-0964-y.

Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report.

BMC Med Genet. 2018 Jul 18;19(1):120. doi: 10.1186/s12881-018-0642-5.

Two novel missense mutations of STS gene underlie X-linked recessive ichthyosis: understanding of the mutational and structural spectrum.

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Two novel missense mutations of STS gene underlie X-linked recessive ichthyosis: understanding of the mutational and structural spectrum.

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