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1.
Clin Genet ; 84(3): 258-64, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23181898

RESUMO

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.


Assuntos
Catarata/congênito , Corpo Estriado/anormalidades , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Adolescente , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Criança , Cromossomos Humanos Par 11 , Consanguinidade , Variações do Número de Cópias de DNA , DNA Mitocondrial/genética , Feminino , Ligação Genética , Humanos , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único , Radiografia , Cintilografia , Síndrome , Adulto Jovem
2.
Clin Genet ; 81(5): 479-84, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-21391991

RESUMO

Hereditary hyperekplexia (HH) is a disorder of the inhibitory glycinergic neurotransmitter system. Mutations in five genes have been reported to cause the disease. However, only single mutation in GLRB, the gene encoding beta-subunit of the glycine receptor, in a singleton patient with HH has been found to date. In this study, 13 patients with HH were identified through neurology and genetic clinics. Formal clinical examinations, linkage analysis, homozygosity mapping, in-mutation screening of GLRB and in silico functional analyses were carried out. A novel mutation in GLRB among nine patients was identified. This c.596 T>G perturbation results in the change of the highly conserved methionine at position 177 to arginine. Besides the classical HH phenotype, seven patients had esotropia and few of them had behavioral problems. This study presents a large family with HH as a result of homozygous mutation in GLRB and expands the clinical spectrum of HH to include eye misalignment disorder. Moreover, the report of these familial cases supports the previous evidence in a single patient of an autosomal recessive inheritance of HH because of defects in GLRB.


Assuntos
Rigidez Muscular/diagnóstico , Rigidez Muscular/genética , Mutação , Receptores de Glicina/genética , Adolescente , Adulto , Sequência de Aminoácidos , Sequência de Bases , Criança , Família , Feminino , Genótipo , Humanos , Escore Lod , Masculino , Modelos Moleculares , Dados de Sequência Molecular , Linhagem , Estrutura Secundária de Proteína , Receptores de Glicina/química , Adulto Jovem
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