TY - JOUR
T1 - Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation
AU - Pierpont, Mary Ella M
AU - Richards, Mary
AU - Engel, W. Keith
AU - Mendelsohn, Nancy J.
AU - Summers, Carole G
N1 - Publisher Copyright:
© 2017 Wiley Periodicals, Inc.
PY - 2017/5
Y1 - 2017/5
N2 - Features of Costello Syndrome, a systemic disorder caused by germline mutations in the proto-oncogene HRAS from the RAS/MAPK pathway, include failure-to-thrive, short stature, coarse facial features, cardiac defects including hypertrophic cardiomyopathy, intellectual disability, and predisposition to neoplasia. Two unrelated boys with Costello syndrome and an HRAS mutation (p.Gly13Cys) are presented with their ophthalmologic findings. Both had early symptoms of nystagmus, photophobia, and vision abnormalities. Fundus examination findings of retinal dystrophy were present at age 3 years. Both boys have abnormal electroretinograms with reduced or undetectable rod responses along with reduced cone responses consistent with rod-cone dystrophy. Our observations suggest that early ophthalmic examination and re-evaluations are indicated in children with Costello syndrome.
AB - Features of Costello Syndrome, a systemic disorder caused by germline mutations in the proto-oncogene HRAS from the RAS/MAPK pathway, include failure-to-thrive, short stature, coarse facial features, cardiac defects including hypertrophic cardiomyopathy, intellectual disability, and predisposition to neoplasia. Two unrelated boys with Costello syndrome and an HRAS mutation (p.Gly13Cys) are presented with their ophthalmologic findings. Both had early symptoms of nystagmus, photophobia, and vision abnormalities. Fundus examination findings of retinal dystrophy were present at age 3 years. Both boys have abnormal electroretinograms with reduced or undetectable rod responses along with reduced cone responses consistent with rod-cone dystrophy. Our observations suggest that early ophthalmic examination and re-evaluations are indicated in children with Costello syndrome.
KW - Costello syndrome
KW - HRAS mutation
KW - Retinal Dystrophy
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U2 - 10.1002/ajmg.a.38110
DO - 10.1002/ajmg.a.38110
M3 - Article
C2 - 28337834
AN - SCOPUS:85016394012
SN - 1552-4825
VL - 173
SP - 1342
EP - 1347
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 5
ER -