Lenz–Majewski syndrome

Lenz–Majewski syndrome
Other namesLenz–Majewski hyperostotic dwarfism (LMHD)[1]

Lenz–Majewski syndrome (LMS), also known as Lenz–Majewski hyperostotic dwarfism (LMHD), is a skin condition characterized by hyperostosis, craniodiaphyseal dysplasia, dwarfism, cutis laxa, proximal symphalangism, syndactyly, brachydactyly, mental retardation, enamel hypoplasia and hypertelorism.[2]: 571 

Genetics

In 2013, whole-exome sequencing showed that a missense mutation resulting in overactive phosphatidylserine synthase 1 was the cause of LMS, making it the first known human disease to be caused by disrupted phosphatidylserine metabolism. The researchers suggested a link between the condition and bone metabolism.[3]

See also

References

  1. ↑ "OMIM Entry - # 151050 - LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD". omim.org. Retrieved 14 March 2019.
  2. ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ↑ Sousa, Sérgio B.; Jenkins, Dagan; Chanudet, Estelle; Tasseva, Guergana; Ishida, Miho; Anderson, Glenn; Docker, James; Ryten, Mina; Sa, Joaquim; Saraiva, Jorge M.; Barnicoat, Angela; Scott, Richard; Calder, Alistair; Wattanasirichaigoon, Duangrurdee; Chrzanowska, Krystyna; Simandlová, Martina; Van Maldergem, Lionel; Stanier, Philip; Beales, Philip L.; Vance, Jean E.; Moore, Gudrun E. (2014). "Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome". Nature Genetics. 46 (1): 70–76. doi:10.1038/ng.2829. hdl:10400.4/1596. PMID 24241535. S2CID 24824535.


This article is issued from Offline. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.