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
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H00889 Lujan-Fryns syndrome
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.
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.
