IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations
| Autor: | Yuanyuan Xu, Mingxing Tang, Yajian Wang, Xiu-An Yang, Wenjia Tong, Danqun Jin |
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| Rok vydání: | 2020 |
| Předmět: |
Male
0301 basic medicine Mental development Pediatrics medicine.medical_specialty Developmental Disabilities 030105 genetics & heredity Compound heterozygosity 03 medical and health sciences Seizures Exome Sequencing Genetics medicine Humans Genetics (clinical) Cyanosis business.industry GTP-Binding Protein beta Subunits Haplotype Infant Cardiac arrhythmia Chromosome Arrhythmias Cardiac medicine.disease Phenotype Ecg monitoring Developmental disorder 030104 developmental biology Haplotypes Neurodevelopmental Disorders business |
| Zdroj: | Journal of Human Genetics. 65:627-631 |
| ISSN: | 1435-232X 1434-5161 |
| Popis: | Herein, we present a Chinese infant with an early-onset intellectual developmental disorder with cardiac arrhythmia syndrome. A 6-month-old boy visited our hospital because of convulsions and paroxysmal cyanosis for 1 day. Mental development analysis showed that the patient had a neurodevelopmental delay. Frequent seizures occurred, and ECG monitoring demonstrated severe cardiac arrhythmia. Whole-exome sequencing showed that the infant had two compound heterozygous variants, NM_016194:c.458G>A/p.Cys153Tyr and NM_016194:c.1032C>A/p.Tyr344*, in GNB5. The first variant was inherited from his mother, while the other one was a de novo variant. Haplotype analysis indicated that the de novo variant was located in the paternal chromosome. Structural modeling indicated that both mutations could influence the interaction of GNB5 with its binding protein. Our study expanded the known genetic and phenotypic spectrum of GNB5-associated diseases, by presenting a Chinese male infant with IDDCA. |
| Databáze: | OpenAIRE |
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