8 Result(s)
within
Eiji Nanba
Biomedicine
Gene Therapy
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Article
Open AccessClinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion
There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female showed strabismus, cleft soft palate, hypotonia at birth, and global...
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Article
Open AccessClinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant
Epilepsy and white matter abnormality have been reported in DYRK1A-related intellectual disability syndrome; however, the clinical course has yet to be elucidated. Here, we report the clinical course of an 18-yea...
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Article
Open AccessDuchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants
A 32-year-old man initially received a diagnosis of Duchenne muscular dystrophy (DMD). Genetic analysis revealed two novel heterozygous FKRP variants: c.169G>A (p.Glu57Lys) and c.692G>A (p.Trp231*). These results...
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Article
Open AccessA new heterozygous compound mutation in the CTSA gene in galactosialidosis
Galactosialidosis is an autosomal recessive lysosomal storage disease caused by the combined deficiency of lysosomal β-galactosidase and neuraminidase due to a defect in the protective protein/cathepsin A. Pat...
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Article
Open AccessA novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease caused by mutations in SLC34A2 and characterized by intra-alveolar accumulation of microliths. We diagnosed a case of PAM in a 27-year...
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Article
Open AccessA novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1
Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and congenital hearing loss. WS1 is caused by mutations in paired box...
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Article
No evidence for significant association between GABA receptor genes in chromosome 15q11–q13 and autism in a Japanese population
The γ-aminobutyric acid (GABA) receptor genes GABRB3, GABRA5, and GABRG3 located on chromosome 15q11–q13 have been major candidates for susceptibility genes for autism, a neurodevelopmental disorder with a comple...
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Article
Anxiety traits associated with a polymorphism in the serotonin transporter gene regulatory region in the Japanese
We determined polymorphism in the serotonin (5-HT) transporter gene-linked polymorphic region (5-HTTLPR) in 501 healthy Japanese, individuals, using the polymerase chain reaction of Lesch et al., with minor m...
