The Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on a Child with X-Linked Intellectual Disability Caused by HUWE1 Gene Mutation: A Case Report

Yang S-T, Wang C-L* and Kong Y-M

Department of Pediatrics, The First Affiliated Hospital Zhejiang University School of Medicine, China

^*Correspondance to: Wang C-L 

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Abstract:

Background: X-Linked Intellectual Disability (XLID) is caused by pathogenic variation of genes on X chromosome, accounting for approximately 15% of all intellectual disability cases. Case Report: A 6-year and 6-month-old girl had one seizure each at 9 and 10 months of age, and both the seizure episodes were generalized seizures, with or without fever. The girl's motor and language development are delayed. Her lower limbs are of unequal length. Meanwhile, her height is growing slowly and lower than the 3rd percentile of children of the same age and sex. There were no obvious abnormalities in her head Computed Tomography (CT) and Electroencephalogram (EEG). A de-novel heterozygous mutation of HUWE1 gene exon 82 (c.12702T>G, p.Ile4234Met) was identified by whole-exon sequencing (Trio-WES). There was no variation at this locus in her parents. The peak of her growth hormone is 10.6 ng/ml. She began receiving the recombinant human Growth Hormone(rhGH) therapy at the age of 4 years and 6 months and continued for two years, her height showed improvement. Conclusion: We reported a girl with XLID caused by HUWE1 gene mutation, she carried the novel heterozygous HUWE1 mutation, and there are only a few reports of X-linked intellectual disability caused by HUWE1 mutation worldwide. In clinical work, for children with intellectual disability and growth retardation, or with a clear family history of abnormalities, gene testing should be actively carried out to clarify the reason.

Keywords:

HUWE1 gene; Mutation, X-linked intellectual disability; Recombinant human growth hormone

Cite the Article:

Yang S-T, Wang C-L, Kong Y-M. The Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on a Child with X-Linked Intellectual Disability Caused by HUWE1 Gene Mutation: A Case Report. Ann Clin Case Rep. 2024; 9: 2631..