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Journal of Genetics

, 98:21 | Cite as

Novel mutation in Cul7 gene in a family diagnosed with 3M syndrome

  • Shagufta Shaikh
  • Suresh K. G. ShettigarEmail author
  • Santosh Kumar
  • Surita Kantharia
  • Jagannath Kurva
  • Susan Cherian
Research Note
  • 26 Downloads

Abstract

This study evaluates a family with two siblings having severe growth retardation and facial dysmorphism, born to consanguineous normal healthy parents. Affymetrix CytoScan 750K microarray showed a 34-Mb pericentric homozygous region on chromosome 6 for both siblings. CUL7 was one of the 141 genes present in this region. Sanger sequencing of CUL7 gene detected a 2-bp novel deletion in the 15th exon (c.2943_2944delCT of the cDNA). This deletion leads to a frameshift and a premature termination signal much upstream of the wild-type termination signal, leading to a nonsense mediated decay of the mRNA. CUL7 protein plays an important role in formation of 3M complex, ubiquitination, microtubule dynamics and cell cycle regulation. Mutations in CUL7 gene is known to cause a rare 3M syndrome. Information about the novel mutation has been accepted in the ClinVar database with rs1064792895.

Keywords

3M syndrome ubiquitination proteasomal degradation skeletal dysplasia consanguinity 

Notes

Acknowledgements

We thank Dr M. Seshadri former Head, RBHSD; Dr Sangeeta S., pediatrician BARC Hospital and Mr Raut, M.Sc. student.

Supplementary material

12041_2019_1057_MOESM1_ESM.docx (1.1 mb)
Supplementary material 1 (docx 1109 KB)
12041_2019_1057_MOESM2_ESM.docx (1.1 mb)
Supplementary material 2 (docx 1114 KB)

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Copyright information

© Indian Academy of Sciences 2019

Authors and Affiliations

  • Shagufta Shaikh
    • 1
  • Suresh K. G. Shettigar
    • 1
    Email author
  • Santosh Kumar
    • 2
  • Surita Kantharia
    • 3
  • Jagannath Kurva
    • 1
  • Susan Cherian
    • 1
  1. 1.Cytogenetics and Molecular Genetics Section, Pathology UnitBhabha Atomic Research Centre HospitalAnushaktinagarIndia
  2. 2.Pediatric Unit, Medical DivisionBhabha Atomic Research Centre HospitalAnushaktinagarIndia
  3. 3.Radiology Unit, Medical DivisionBhabha Atomic Research Centre HospitalAnushaktinagarIndia

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