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Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency.
Zhang, Jingjing; Ma, Dingyuan; Liu, Gang; Zeng, Huasha; Wang, Yuguo; Luo, Chunyu; Hu, Ping; Xu, Zhengfeng.
Afiliación
  • Zhang J; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China.
  • Ma D; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China.
  • Liu G; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China.
  • Zeng H; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China.
  • Wang Y; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China.
  • Luo C; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China.
  • Hu P; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China.
  • Xu Z; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China.
J Clin Lab Anal ; 36(12): e24786, 2022 Dec.
Article en En | MEDLINE | ID: mdl-36441600
BACKGROUND: Multiple sulfatase deficiency (MSD) (MIM#272200) is an ultra-rare autosomal recessive lysosomal storage disorder caused by mutation of the Sulfatase Modifying Factor 1 (SUMF1) gene. METHODS: Herein, we report an eight-year-old boy with a late infantile form of multiple sulfatase deficiency. A combination of copy-number variation sequencing (CNV-seq) and whole-exome sequencing (WES) were used to analyze the genetic cause for the MSD patient. RESULTS: Our results, previously not seen in China, show a novel compound heterozygous mutation with one allele containing a 240.55 kb microdeletion on 3p26.1 encompassing the SETMAR gene and exons 4-9 of the SUMF1 gene, and the other allele containing a novel missense mutation of c.671G>A (p.Arg224Gln) in the SUMF1 gene. Both were inherited from the proband's unaffected parents, one from each. Bioinformatics analyses show the novel variation to be "likely pathogenic." SWISS-MODEL analysis shows that the missense mutation may alter the three-dimensional (3D) structure. CONCLUSIONS: In summary, this study reported a novel compound heterozygous with microdeletion in SUMF1 gene, which has not been reported in China. The complex clinical manifestations of MSD may delay diagnosis; however, molecular genetic analysis of the SUMF1 gene can be performed to help obtain an early diagnosis.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad por Deficiencia de Múltiples Sulfatasas Tipo de estudio: Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Child / Humans / Male Idioma: En Revista: J Clin Lab Anal Asunto de la revista: TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad por Deficiencia de Múltiples Sulfatasas Tipo de estudio: Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Child / Humans / Male Idioma: En Revista: J Clin Lab Anal Asunto de la revista: TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos