TY - JOUR
T1 - Ophthalmologic abnormalities in a de novo terminal 6q deletion
AU - Abu-Amero, Khaled K.
AU - Hellani, Ali
AU - Salih, Mustafa A.
AU - Hussain, Abdulkarim Al
AU - Obailan, Majed Al
AU - Zidan, Ghassan
AU - Alorainy, Ibrahim A.
AU - Bosley, Thomas M.
N1 - Funding Information:
The authors thank Drs. David Zee and Howard Ying, Department of Ophthalmology, Johns Hopkins University; Dr. David Hunter, Department of Ophthalmology, Boston Children’s Hospital; and Darren Oystreck, Department of Ophthalmology, King Saud University, for their help in interpreting the ocular motility. Thanks are also due to Dr. M. Kabiraj of the Division of Neurophysiology, Neurosciences Department, Armed Forces Hospital, Riyadh, for discussing the neurophysiology tests. KKA and TMB are supported by the Glaucoma Research Chair of the Department of Ophthalmology, College of Medicine; King Saud University, Riyadh, Saudi Arabia. AH is supported by the Saad Specialist Hospital, Al-Khobar, Saudi Arabia. Ethics approval was obtained by the Ethics Committee at College of Medicine IRB, King Saud University. Patient consent was obtained.
Funding Information:
causing an indentation of the body of the right lateral ventricle. The gray matter lining this sulcus was thick in some areas and lacked differentiation from underlying white matter, indicating polymicrogyria. This observation was supported by widened CSF spaces at both the medial and lateral ends of the sulcus and by the presence of a large cortical vein within the widened lateral end.
PY - 2010/3
Y1 - 2010/3
N2 - Purpose: To correlate the clinical phenotype with the genotype of a boy with a terminal deletion of chromosome 6q and to compare these observations to previous reports of 6q deletions and review of the literature. Methods: Careful clinical evaluation, conventional cytogenetic analysis on GTG-banded chromosomes and 244K array CGH analysis. Results: This 14 year old Saudi boy had modest mental retardation, seizures, microcephaly, cortical dysplasia, a non-comitant esotropia, impersistent eccentric gaze, congenital nystagmus, thick corneas, and substantial myopia. He had a de novo 10.79Mb deletion on chromosome 6 from 6q25.3 to 6qter. The deleted region extended from nucleotide 159929512 to 170723629 and encompassed 87 genes. Eleven genes remained within the proband's deleted region after excluding genes located in deleted areas reported in phenotypically normal individuals. Among those 11 genes, only the TBP (TATA box binding protein) gene has been associated with any symptom or sign observed in our patient. Conclusions: This boy had clinical features similar to patients reported with the 6q terminal deletion syndrome. In addition, he had an unusual ocular motility pattern and thick corneas, features that may be more common than previously recognized. Deleted genes in this area of chromosome 6 may contribute to ophthalmic abnormalities in addition to mental retardation.
AB - Purpose: To correlate the clinical phenotype with the genotype of a boy with a terminal deletion of chromosome 6q and to compare these observations to previous reports of 6q deletions and review of the literature. Methods: Careful clinical evaluation, conventional cytogenetic analysis on GTG-banded chromosomes and 244K array CGH analysis. Results: This 14 year old Saudi boy had modest mental retardation, seizures, microcephaly, cortical dysplasia, a non-comitant esotropia, impersistent eccentric gaze, congenital nystagmus, thick corneas, and substantial myopia. He had a de novo 10.79Mb deletion on chromosome 6 from 6q25.3 to 6qter. The deleted region extended from nucleotide 159929512 to 170723629 and encompassed 87 genes. Eleven genes remained within the proband's deleted region after excluding genes located in deleted areas reported in phenotypically normal individuals. Among those 11 genes, only the TBP (TATA box binding protein) gene has been associated with any symptom or sign observed in our patient. Conclusions: This boy had clinical features similar to patients reported with the 6q terminal deletion syndrome. In addition, he had an unusual ocular motility pattern and thick corneas, features that may be more common than previously recognized. Deleted genes in this area of chromosome 6 may contribute to ophthalmic abnormalities in addition to mental retardation.
KW - Chromosome deletion
KW - Congenital nystagmus
KW - Esotropia
KW - Horizontal gaze anomaly
KW - Mental retardation
KW - Myopia
KW - Thick cornea
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U2 - 10.3109/13816810903312535
DO - 10.3109/13816810903312535
M3 - Article
C2 - 20141352
AN - SCOPUS:76649086035
SN - 1381-6810
VL - 31
SP - 1
EP - 11
JO - Ophthalmic genetics
JF - Ophthalmic genetics
IS - 1
ER -