#301095
Table of Contents
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| Xq26.3-q27.1 | Intellectual developmental disorder, X-linked 110 | 301095 | XLR | 3 | FGF13 | 300070 |
A number sign (#) is used with this entry because of evidence that X-linked intellectual developmental disorder-110 (XLID110) is caused by a hemizygous mutation in the FGF13 gene (300070) on chromosome Xq26.
X-linked intellectual developmental disorder-110 (XLID110) is characterized by moderately to severely impaired intellectual development.
Pan et al. (2021) described 3 unrelated boys of Han Chinese ancestry, ranging in age from 8 to 13 years, with moderately to severely impaired intellectual development (full-scale IQs of less than 40). All 3 were born after a full-term pregnancy and were of normal birth weight. Two of the 3 patients were reported to have a high pain threshold. No other findings were described.
The transmission pattern of XLID110 in the families reported by Pan et al. (2021) was consistent with X-linked recessive inheritance.
By Sanger sequencing of the FGF13 gene in 100 Han Chinese children with IQs of less than 40, Pan et al. (2021) identified 3 boys with a single-nucleotide polymorphism (c.-32C-G) in the 5-prime untranslated region of FGF13 mRNA. In all 3 families, the variant was inherited from an unaffected mother. In HEK293 cells and patient-derived induced pluripotent stem cells, the variant reduced FGF13 translation, which stabilizes microtubules in developing neurons. The variant also reduced the interaction between the 5-prime untranslated region and PTBP2 (608449), which was required for FGF13 translation in cortical neurons.
Pan et al. (2021) found that mice carrying the homologous c.-32C-G mutation had delayed neuronal migration during cortical development as well as weakened learning and memory.
Pan, X., Zhao, J., Zhou, Z., Chen, J., Yang, Z., Wu, Y., Bai, M., Jiao, Y., Yang, Y., Hu, X., Cheng, T., Lu, Q., and 14 others. 5'-UTR SNP of FGF13 causes translational defect and intellectual disability. eLife 10: e63021, 2021. [PubMed: 34184986, images, related citations] [Full Text]
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| Xq26.3-q27.1 | Intellectual developmental disorder, X-linked 110 | 301095 | X-linked recessive | 3 | FGF13 | 300070 |
A number sign (#) is used with this entry because of evidence that X-linked intellectual developmental disorder-110 (XLID110) is caused by a hemizygous mutation in the FGF13 gene (300070) on chromosome Xq26.
X-linked intellectual developmental disorder-110 (XLID110) is characterized by moderately to severely impaired intellectual development.
Pan et al. (2021) described 3 unrelated boys of Han Chinese ancestry, ranging in age from 8 to 13 years, with moderately to severely impaired intellectual development (full-scale IQs of less than 40). All 3 were born after a full-term pregnancy and were of normal birth weight. Two of the 3 patients were reported to have a high pain threshold. No other findings were described.
The transmission pattern of XLID110 in the families reported by Pan et al. (2021) was consistent with X-linked recessive inheritance.
By Sanger sequencing of the FGF13 gene in 100 Han Chinese children with IQs of less than 40, Pan et al. (2021) identified 3 boys with a single-nucleotide polymorphism (c.-32C-G) in the 5-prime untranslated region of FGF13 mRNA. In all 3 families, the variant was inherited from an unaffected mother. In HEK293 cells and patient-derived induced pluripotent stem cells, the variant reduced FGF13 translation, which stabilizes microtubules in developing neurons. The variant also reduced the interaction between the 5-prime untranslated region and PTBP2 (608449), which was required for FGF13 translation in cortical neurons.
Pan et al. (2021) found that mice carrying the homologous c.-32C-G mutation had delayed neuronal migration during cortical development as well as weakened learning and memory.
Pan, X., Zhao, J., Zhou, Z., Chen, J., Yang, Z., Wu, Y., Bai, M., Jiao, Y., Yang, Y., Hu, X., Cheng, T., Lu, Q., and 14 others. 5'-UTR SNP of FGF13 causes translational defect and intellectual disability. eLife 10: e63021, 2021. [PubMed: 34184986] [Full Text: https://doi.org/10.7554/eLife.63021]
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