A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair

@inproceedings{Tariq2012ANM,
  title={A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair},
  author={Muhammad Usman Tariq and Aysha Azhar and Shahid M Baig and Niklas Dahl and Joakim Klar},
  booktitle={Scientific reports},
  year={2012}
}
Mutations in the lipase member H (LIPH) gene cause autosomal recessive hypotrichosis with woolly hair. We report herein on five consanguineous families from Pakistan segregating hypotrichosis and woolly hair. Genetic investigation using polymorphic microsatellite markers revealed homozygosity for a region spanning the HYPT7 locus on chromosome 3 in affected individuals of all five families. Sequence analysis of the LIPH gene revealed a novel nonsense mutation (p.Arg260X) associated with… CONTINUE READING
1
Twitter Mention

References

Publications referenced by this paper.
SHOWING 1-10 OF 16 REFERENCES

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair

S. M. Baig, N. Dahl, J. Klar
  • Sci . Rep .
  • 2012

The authors declare no competing financial interests

G. M. Lathrop, Lalouel, +17 authors all author’s reviewed the manuscript. Additional infor interests
  • License: This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/3.0/ How to cite this article: Tariq, M., Azhar, A., Baig, S.M., Dahl, N. & Klar, J. A novel mutation
  • 2012

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan

S Khan
  • Clin Exp Dermatol
  • 2011

Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair

Sandra M. Pasternack, Sundaram Murugusundram, +4 authors Regina C. Betz
  • Archives of Dermatological Research
  • 2009
VIEW 1 EXCERPT

The effect of inbreeding on the distribution of compound heterozygotes : a lesson from Lipase H mutations in autosomal recessive woolly hair / hypotrichosis

L. Petukhova
  • Hum Hered
  • 2009

a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis

Petukhova, L. et al. The effect of inbreeding on the distributio heterozygotes
  • Hum Hered 68, 117–30
  • 2009