Chapter title |
Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion
|
---|---|
Chapter number | 108 |
Book title |
JIMD Reports, Volume 43
|
Published in |
JIMD Reports, January 2018
|
DOI | 10.1007/8904_2018_108 |
Pubmed ID | |
Book ISBNs |
978-3-66-258613-6, 978-3-66-258614-3
|
Authors |
Katsuyuki Yokoi, Yoko Nakajima, Tamae Ohye, Hidehito Inagaki, Yoshinao Wada, Tokiko Fukuda, Hideo Sugie, Isao Yuasa, Tetsuya Ito, Hiroki Kurahashi, Yokoi, Katsuyuki, Nakajima, Yoko, Ohye, Tamae, Inagaki, Hidehito, Wada, Yoshinao, Fukuda, Tokiko, Sugie, Hideo, Yuasa, Isao, Ito, Tetsuya, Kurahashi, Hiroki |
Abstract |
Phosphoglucomutase 1 (PGM1) deficiency is a recently defined disease characterized by glycogenosis and a congenital glycosylation disorder caused by recessive mutations in the PGM1 gene. We report a case of a 12-year-old boy with first-cousin parents who was diagnosed with a PGM1 deficiency due to significantly decreased PGM1 activity in his muscle. However, Sanger sequencing revealed no pathogenic mutation in the PGM1 gene in this patient. As this case presented with a cleft palate in addition to hypoglycemia and elevated transaminases and creatine kinase, karyotyping was performed and identified homozygous inv(1)(p31.1p32.3). Based on the chromosomal location of the PGM1 gene at 1p31, we analyzed the breakpoint of the inversion. Fluorescence in situ hybridization (FISH) combined with long PCR analysis revealed that the inversion disrupts the PGM1 gene within intron 1. Since the initiation codon in the PGM1 gene is located within exon 1, we speculated that this inversion inactivates the PGM1 gene and was therefore responsible for the patient's phenotype. When standard molecular testing fails to reveal a mutation despite a positive clinical and biochemical diagnosis, the presence of a gross structural variant that requires karyotypic examination must be considered. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 16 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Professor | 3 | 19% |
Student > Doctoral Student | 1 | 6% |
Other | 1 | 6% |
Researcher | 1 | 6% |
Professor > Associate Professor | 1 | 6% |
Other | 0 | 0% |
Unknown | 9 | 56% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 4 | 25% |
Agricultural and Biological Sciences | 2 | 13% |
Medicine and Dentistry | 2 | 13% |
Unknown | 8 | 50% |