Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
Polymicrogyria (PMG) is a clinically heterogeneous malformation of cortical development, characterized by a loss of the normal gyral pattern that is replaced by many small and infolded gyri separated by shallow sulci that are partly fused in their depths. Causes of PMG are heterogeneous and include acquired and genetic causes. There are more than 100 syndromes possibly associated with PMG but mutations in specific genes such as SRPX2, GPR56, TUBB2B, TUBB3, NHEJ1, TUBA1A, TUBA8, and WDR62 have been reported only in a minority of patients.
Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France.
Stéphanie
S
Valence
Karine
K
Poirier
Nicolas
N
Lebrun
Yoann
Y
Saillour
Pascale
P
Sonigo
Bettina
B
Bessières
Tania
T
Attié-Bitach
Alexandra
A
Benachi
Cécile
C
Masson
Ferechté
F
Encha-Razavi
Jamel
J
Chelly
Nadia
N
Bahi-Buisson
D001921:Brain / Q000473:pathology*; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D005333:Fetus; D006720:Homozygote; D006801:Humans; D008297:Male; D054220:Malformations of Cortical Development / Q000235:genetics* / Q000473:pathology*; D009154:Mutation; D010154:Pakistan
D002352:Carrier Proteins