TY - JOUR
T1 - Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations
T2 - Five novel mutations and review of the literature
AU - Mirzaa, Ghayda M.
AU - Enyedi, Laura
AU - Parsons, Gretchen
AU - Collins, Sarah
AU - Medne, Livija
AU - Adams, Carissa
AU - Ward, Thomas
AU - Davitt, Bradley
AU - Bicknese, Alma
AU - Zackai, Elaine
AU - Toriello, Helga
AU - Dobyns, William B.
AU - Christian, Susan
N1 - Publisher Copyright:
© 2014 Wiley Periodicals, Inc.
PY - 2014/11/1
Y1 - 2014/11/1
N2 - The microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a distinct microcephaly syndrome. The hallmark features, microcephaly, chorioretinopathy, and lymphedema are frequently recognized at birth. Another clinical entity, the chorioretinal dysplasia, microcephaly and mental retardation syndrome (CDMMR) is a highly overlapping syndrome characterized by more variable lymphedema. Recently, heterozygous mutations in KIF11, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in individuals with MLCRD, and in individuals with CDMMR. This finding is suggestive of a single clinically variable spectrum. Here, we report on de novo novel mutations of KIF11 in five individuals with severe microcephaly, marked simplification of the gyral pattern on neuroimaging, bilateral chorioretinopathy, and developmental delay. Three patients had congenital lymphedema, and one had congenital bilateral sensorineural hearing loss. This report, therefore, further expands the clinical and molecular spectrum of KIF11-associated microcephaly.
AB - The microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a distinct microcephaly syndrome. The hallmark features, microcephaly, chorioretinopathy, and lymphedema are frequently recognized at birth. Another clinical entity, the chorioretinal dysplasia, microcephaly and mental retardation syndrome (CDMMR) is a highly overlapping syndrome characterized by more variable lymphedema. Recently, heterozygous mutations in KIF11, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in individuals with MLCRD, and in individuals with CDMMR. This finding is suggestive of a single clinically variable spectrum. Here, we report on de novo novel mutations of KIF11 in five individuals with severe microcephaly, marked simplification of the gyral pattern on neuroimaging, bilateral chorioretinopathy, and developmental delay. Three patients had congenital lymphedema, and one had congenital bilateral sensorineural hearing loss. This report, therefore, further expands the clinical and molecular spectrum of KIF11-associated microcephaly.
KW - Chorioretinopathy
KW - KIF11
KW - Lymphedema
KW - Microcephaly
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U2 - 10.1002/ajmg.a.36707
DO - 10.1002/ajmg.a.36707
M3 - Article
C2 - 25115524
AN - SCOPUS:84911392717
SN - 1552-4825
VL - 164
SP - 2879
EP - 2886
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 11
ER -