title: A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11.
abstract: We report a consanguineous family of three girls and one boy affected with a novel syndrome involving the lens and the basal ganglia. The phenotype is strikingly similar between affected siblings with cognitive impairment, attention deficit hyperactivity disorder (ADHD), microcephaly, growth retardation, congenital cataract, and dystonia. The magnetic resonance imaging showed unusual pattern of swelling of the caudate heads and thinning of the putamina with severe degree of hypometabolism on the [18F] deoxyglucose positron emission tomography. Furthermore, the clinical assessment provides the evidence that the neurological phenotype is very slowly progressive. We utilized the 10K single-nucleotide polymorphism (SNP) microarray genotyping for linkage analysis. Genome-wide scan indicated a 45.9-Mb region with a 4.2353 logarithm of the odds score on chromosome 11. Affymetrix genome-wide human SNP array 6.0 assay did not show any gross chromosomal abnormality. Targeted sequencing of two candidate genes within the linkage interval (PAX6 and B3GALTL) as well as mtDNA genome sequencing did not reveal any putative mutations.
authors.affiliation: Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: M
authors.initials: M
authors.lastname: Al-Owain
authors.forename: J
authors.initials: J
authors.lastname: Al-Zahrani
authors.forename: A
authors.initials: A
authors.lastname: Al-Bakheet
authors.forename: N
authors.initials: N
authors.lastname: Abudheim
authors.forename: B
authors.initials: B
authors.lastname: Al-Younes
authors.forename: H
authors.initials: H
authors.lastname: Aldhalaan
authors.forename: H
authors.initials: H
authors.lastname: Al-Zaidan
authors.forename: D
authors.initials: D
authors.lastname: Colak
authors.forename: F
authors.initials: F
authors.lastname: Almohaileb
authors.forename: M E
authors.initials: ME
authors.lastname: Abouzied
authors.forename: F
authors.initials: F
authors.lastname: Al-Fadhli
authors.forename: B
authors.initials: B
authors.lastname: Meyer
authors.forename: N
authors.initials: N
authors.lastname: Kaya
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002386:Cataract / Q000151:congenital*; D002648:Child; D002880:Chromosomes, Human, Pair 11; D003241:Consanguinity; D003342:Corpus Striatum / Q000002:abnormalities*; D056915:DNA Copy Number Variations; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011859:Radiography; D011877:Radionuclide Imaging; D013577:Syndrome; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial