Additional causal SNRPE mutations in hereditary hypotrichosis simplex

C Pan^{1

2}, A Humbatova³, L Zheng^{1

2}, N Cesarato³, C Grimm⁴, F Chen^{1

2}, B Blaumeiser⁵, A Catalán-Lambán⁶, A Patiño-García⁶, U Fischer⁴, R Cheng¹, Y Li^{1

2}, X Yu¹, Z Yao^{1

2}, M Li^{1

2

7}, R C Betz³

Affiliations

¹ Department of Dermatology, Xinhua Hospital, Shanghai, China.
² Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China.
³ Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.
⁴ Department of Biochemistry, University of Würzburg, Würzburg, Germany.
⁵ Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
⁶ Department of Pediatrics, Clínica Universidad de Navarra, Pamplona, Spain.
⁷ Center for Rare Diseases Diagnosis, Shanghai, China.

C Pan et al. Br J Dermatol. 2021 Aug.

. 2021 Aug;185(2):439-441.

doi: 10.1111/bjd.20089. Epub 2021 May 25.

¹ Department of Dermatology, Xinhua Hospital, Shanghai, China.
² Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China.
³ Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.
⁴ Department of Biochemistry, University of Würzburg, Würzburg, Germany.
⁵ Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
⁶ Department of Pediatrics, Clínica Universidad de Navarra, Pamplona, Spain.
⁷ Center for Rare Diseases Diagnosis, Shanghai, China.

No abstract available

References

1. Betz RC, Cabral RM, Christiano AM et al. Unveiling the roots of monogenic genodermatoses: genotrichoses as a paradigm. J Invest Dermatol 2012; 132:906-14.
1. Chen T, Zhang B, Ziegenhals T, et al. A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing. PLOS Genet 2019; 15:e1008460.
1. Pasternack SM, Refke M, Paknia E et al. Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. Am J Hum Genet 2013; 92:81-7.