From Wikipedia, the free encyclopedia
Medical condition
Lenz–Majewski syndrome |
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Other names | Lenz–Majewski hyperostotic dwarfism (LMHD)
[1] |
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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, intellectual disability,
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
-
^
"OMIM Entry - # 151050 - LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD". omim.org. Retrieved 14 March 2019.
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^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders.
ISBN
0-7216-2921-0.
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^ 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.
External links