Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

BACKGROUND Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype--genotype correlation has been lacking. METHODS We performed a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked cr...

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease. Considerable allelic heterogeneity has been observed. A "European Community Alport Syndrome Concerted Acti...

Genotype/phenotype correlations in X-linked agammaglobulinemia.

No clear genotype/phenotype correlations have been established in patients with X-linked agammaglobulinemia (XLA). To determine if the specific mutation in Btk might be one of the factors that influences the severity of disease or if polymorphic variants in Tec, a cytoplasmic tyrosine kinase that might substitute for Btk, could contribute to the clinical phenotype, we examined the age at diagno...

Diagnosis of X-Linked creatine transporter deficiency in a patient from Northeast China

Background: Creatine transporter (CRTR) deficiency is the most common creatine deficiency syndrome, of which the final diagnosis relies on mutation in the X-linked CRTR gene. To date, more than 90 mutations in the SLC6A8 gene have been reported. This paper discusses a novel mutation detected via the thorough sequencing of all the X-chromosome-specific exons investigated in a four and a half yea...

Pathogenesis of creatine transporter deficiency