Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2019 Apr;7(4):e00596.
doi: 10.1002/mgg3.596. Epub 2019 Feb 6.

Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency

Xinran Cheng  1 , Fang Tang  1 , Xuyun Hu  2 , Hongduo Li  2 , Mengting Li  2 , Yiyong Fu  3 , Li Yan  1 , Zhonghui Li  1 , Peng Gou  1 , Na Su  1 , Chunzhu Gong  1 , Weilan He  1 , Rong Xiang  1 , Dongmei Bu  1 , Yiping Shen  2   4   5   6
Affiliations
Case Reports

Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency

Xinran Cheng et al. Mol Genet Genomic Med. 2019 Apr.

Abstract

Background: Heterozygous mutations in the AT-hook DNA-binding motif containing one (AHDC1, OMIM * 615790) gene cause an autosomal dominant multisystem developmental disorder known as Xia-Gibbs syndrome (OMIM #615829). Xia-Gibbs syndrome typically presented with global developmental delay, hypotonia, obstructive sleep apnea, seizures, delayed myelination, micrognathia, and other mild dysmorphic features.

Methods: Description of the clinical materials of two Chinese boys who were diagnosed with Xia-Gibbs syndrome based on clinical presentations and next generation sequencing. Review of clinical features and AHDC1 mutations in previously reported Xia-Gibbs syndrome patients together with our two new patients.

Results: The Xia-Gibbs syndrome patients exhibited short stature, hypotonia, global developmental delay, speech delay, simian crease, and mild dysmorphic features. Next generation sequencing revealed de novo heterozygous variants in AHDC1 gene. In addition, laboratory test revealed partial growth hormone deficiency. Both patients underwent growth hormone replacement therapy for 24 and 9 months, respectively, and exhibited good response to the treatment.

Conclusion: This is the first report of Xia-Gibbs syndrome patients to be treated with growth hormone. Review of previously reported Xia-Gibbs syndrome patient indicated that short stature is a frequent feature of this condition, but its underlying cause needs to be further investigated.

Keywords: AHDC1 mutation; Xia-Gibbs syndrome; next generation sequencing; partial growth hormone deficiency.

PubMed Disclaimer

Conflict of interest statement

All authors declare that there is no conflict of interest.

Figures

Figure 1
Figure 1
Clinical features of the case 1. (a, b) He had dysmorphic features including hypertelorism, a broad forehead, long philtrum, upslanting palpebral fissures, hypoplastic columella and ala nasi, thin upper lip, high‐arched palate, epicanthic fold, and micrognathia. (c) He had brachydactyly and a simian crease on his right hand. (d–f) Brain magnetic resonance imaging (MRI) scans showed the sulci and the lateral ventricle widened, the white matter volume was less than normal (arrows)
Figure 2
Figure 2
Growth hormone doses and growth chart in case 1 (GH: growth hormone doses; H: height; W: weight)
Figure 3
Figure 3
Clinical features of the case 2. (a, b) He had dysmorphic features including a broad forehead, hypertelorism, upslanting palpebral fissures, hypoplastic columella and ala nasi, flat nasal bridge, long philtrum, upturned earlobes, high‐arched palate, micrognathia. (c) He had brachydactyly and simian crease in both palms. (d, e) Brain magnetic resonance imaging (MRI) showed an enlarged cerebellomedullary cistern and arachnoidal cyst
Figure 4
Figure 4
Growth hormone doses and growth chart in case 2 (GH: growth hormone doses; H: height; W: weight)
See this image and copyright information in PMC

References

    1. Bosch, D. G. , Boonstra, F. N. , de Leeuw, N. , Pfundt, R. , Nillesen, W. M. , de Ligt, J. , … de Vries, B. B. (2016). Novel genetic causes for cerebral visual impairment. European Journal of Human Genetics, 24(5), 660–665. 10.1038/ejhg.2015.186 - DOI - PMC - PubMed
    1. García‐Acero, M. , & Acosta, J. (2017). Whole‐exome sequencing identifies a de novo AHDC1 mutation in a colombian patient with Xia‐Gibbs syndrome. Molecular Syndromology, 8(6), 308–312. 10.1159/000479357 - DOI - PMC - PubMed
    1. Grimberg, A. , DiVall, S. A. , Polychronakos, C. , Allen, D. B. , Cohen, L. E. , & Quintos, J. B. … Ethics Committee of the Pediatric Endocrine Society (2016). Guidelines for growth hormone and insulin‐like growth factor‐I treatment in children and adolescents: Growth hormone deficiency, idiopathic short stature, and primary insulin‐like growth factor‐I deficiency. Hormone Research in Paediatrics, 86(6), 361–397. 10.1159/000452150 - DOI - PubMed
    1. Hu, X. , Gui, B. , Su, J. , Li, H. , Li, N. , Yu, T. , … Shen, Y. (2017). Novel pathogenic ACAN variants in non‐syndromic short stature patients. Clinica Chimica Acta, 469, 126–129. 10.1016/j.cca.2017.04.004 - DOI - PubMed
    1. Jiang, Y. , Wangler, M. F. , McGuire, A. L. , Lupski, J. R. , Posey, J. E. , Khayat, M. M. , … Gibbs, R. A. (2018). The phenotypic spectrum of Xia‐Gibbs syndrome. American Journal of Medical Genetics. Part A, 176(6), 1315–1326. 10.1002/ajmg.a.38699 - DOI - PMC - PubMed

Publication types

LinkOut - more resources