Keiko Shimojima
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View article: Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review
Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review Open
Interstitial microdeletions in the proximal region of the long arm of chromosome 6 are rare. Herein we have reported 12 patients with developmental delays associated with interstitial microdeletions in 6q ranging from q12 to q22. The micro…
View article: Novel A178P mutation in <i>SLC16A2</i> in a patient with Allan‐Herndon‐Dudley syndrome
Novel A178P mutation in <i>SLC16A2</i> in a patient with Allan‐Herndon‐Dudley syndrome Open
Allan-Herndon-Dudley syndrome (AHDS) is a neurodevelopmental disorder related to thyroid transporter (monocarboxylate transporter 8: MCT8) deficiency (MIM #300523) (Allan et al. 1944). Mutations in the solute carrier family 16 member 2 (SL…
View article: A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder
A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder Open
We describe a 9-year-old male patient with a 15q14 microdeletion including MEIS2. The patient was born with a ventricular septal defect and submucosal cleft. Mild developmental disability and autism spectrum disorder diagnosed in childhood…
View article: Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome
Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome Open
Mutations in nuclear receptor SET domain-containing protein 1 gene (NSD1) are related to Sotos syndrome, which is characterized by overgrowth, macrocephaly, distinctive features, and neurodevelopmental disabilities. On the other hand, muta…
View article: A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects
A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects Open
Interstitial deletions in the 10q21.3q22.2 chromosomal region are rare. A de novo microdeletion in this region was identified in a patient with severe developmental delay and multiple congenital anomalies, including congenital heart defect…
View article: Neurological manifestations of 2q31 microdeletion syndrome
Neurological manifestations of 2q31 microdeletion syndrome Open
Microdeletion of 2q31 involving the HOXD gene cluster is a rare syndrome. The deletion of the HOXD gene cluster is thought to result in skeletal anomalies in these patients. HOX genes encode highly conserved transcription factors that cont…
View article: A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease
A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease Open
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelination disorder caused by mutations in the proteolipid protein 1 gene (PLP1) located on chromosome Xq22. A male patient showed severe developmental delay, pendular nystag…
View article: A novel <i>CASK</i> mutation identified in siblings exhibiting developmental disorders with/without microcephaly
A novel <i>CASK</i> mutation identified in siblings exhibiting developmental disorders with/without microcephaly Open
The calcium/calmodulin-dependent serine protein kinase gene (CASK) mutations are associated with various neurological disorders; a syndrome of intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH), F…
View article: A novel <i>PGK1</i> mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria
A novel <i>PGK1</i> mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria Open
Phosphoglycerate kinase (PGK) deficiency affects three different organs: red blood cells (RBC), the central nervous system, and muscles. Next-generation sequencing identified a hemizygous PGK1 mutation (p.V217I) in a 16-year-old Japanese m…
View article: Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient
Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient Open
Cases of 2q23q24 microdeletion syndrome are rare. Patients with chromosomal deletions in this region often show language impairment and/or developmental delay of variable severity. Previous genotype–phenotype correlation study suggested GA…
View article: Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson–Golabi–Behmel syndrome
Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson–Golabi–Behmel syndrome Open
Simpson-Golabi-Behmel syndrome is a congenital malformation syndrome associated with mutations in GPC3, which is located in the Xq26 region. Three new loss-of-function mutations and a global X-chromosome rearrangement involving GPC3 were i…
View article: A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features
A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features Open
Interstitial deletions of the 16q centromeric region are rarely reported. A microdeletion of the 16q12.2q21 region was identified in a patient with intellectual disability, epilepsy, short stature, and distinctive features; including up‐sl…
View article: Novel <i>SLC16A2</i> mutations in patients with Allan-Herndon-Dudley syndrome
Novel <i>SLC16A2</i> mutations in patients with Allan-Herndon-Dudley syndrome Open
Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder caused by impaired thyroid hormone transporter. Patients with AHDS usually exhibit severe motor developmental delay, delayed myelination of the brain white matter, and elevated T…