H00889 | |
H number | H00889 |
Name | Lujan-Fryns syndrome; X-linked mental retardation with Marfanoid habitus |
Description | Lujan-Fryns syndrome (LFS) is an X-linked mental retardation (XLMR) syndrome, caused by mutations in the MED12 gene. LFS is characterized by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate mental retardation, behavioral aberrations and dysgenesis of the corpus callosum. |
Category | Congenital malformation |
Network | - |
Gene | MED12 [HSA:9968] [KO:K15162] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | A recurrent mutation (c.2881C->T, p.R961W) in exon 21 of MED12 gene has been found in the family with FGS. A separate sequence alteration (c.3020A->G, p.N1007S) in exon 22 of the MED12 gene has been found in the family with LFS. |
Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C537724 OMIM: 309520 |
Reference | PMID:17369503 AUTHORS Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE TITLE The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. JOURNAL J Med Genet 44:472-7 (2007) DOI:10.1136/jmg.2006.048637 PMID:20301719 AUTHORS Lyons MJ TITLE MED12-Related Disorders JOURNAL GeneReviews (1993) |