Editorial: Novel Insights Into the Genetics of Growth Disorders

Overview

Journal Front Genet

Date 2022 Jun 27

PMID 35754806

Authors

Mara Giordano

Liborio Stuppia

Affiliations

Soon will be listed here.

References

Stuppia L, Gatta V, Antonucci I, Giuliani R, Palka G . Different approaches in the molecular analysis of the SHOX gene dysfunctions. J Endocrinol Invest. 2010; 33(6 Suppl):30-3. View

Babu D, Vannelli S, Fanelli A, Mellone S, Baffico A, Corrado L . Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency. Eur J Hum Genet. 2020; 29(1):110-121. PMC: 7852508. DOI: 10.1038/s41431-020-0676-y. View

Genoni G, Monzani A, Castagno M, Ricotti R, Rapa A, Petri A . Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity. Pediatr Res. 2017; 83(2):438-444. DOI: 10.1038/pr.2017.247. View

Benito-Sanz S, Thomas N, Huber C, Gorbenko Del Blanco D, Aza-Carmona M, Crolla J . A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am J Hum Genet. 2005; 77(4):533-44. PMC: 1275603. DOI: 10.1086/449313. View

Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A . Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet. 1997; 16(1):54-63. DOI: 10.1038/ng0597-54. View

Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L . Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes. J Clin Endocrinol Metab. 2021; 106(11):e4716-e4733. PMC: 8530715. DOI: 10.1210/clinem/dgab437. View

Hisado-Oliva A, Ruzafa-Martin A, Sentchordi L, Funari M, Bezanilla-Lopez C, Alonso-Bernaldez M . Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature. Genet Med. 2017; 20(1):91-97. DOI: 10.1038/gim.2017.66. View

Zinn A, Page D, Fisher E . Turner syndrome: the case of the missing sex chromosome. Trends Genet. 1993; 9(3):90-3. DOI: 10.1016/0168-9525(93)90230-f. View

Wu J, Wang M, Jiao Z, Dou B, Li B, Zhang J . Novel Loss-of-Function Mutations in Cause Acromesomelic Dysplasia, Maroteaux Type. Front Genet. 2022; 13:823861. PMC: 8967736. DOI: 10.3389/fgene.2022.823861. View

10.

Benabbad I, Rosilio M, Child C, Carel J, Ross J, Deal C . Safety Outcomes and Near-Adult Height Gain of Growth Hormone-Treated Children with SHOX Deficiency: Data from an Observational Study and a Clinical Trial. Horm Res Paediatr. 2016; 87(1):42-50. PMC: 5348728. DOI: 10.1159/000452973. View

11.

Dias C, Giordano M, Frechette R, Bellone S, Polychronakos C, Legault L . Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature. J Cell Mol Med. 2017; 21(11):2985-2999. PMC: 5661101. DOI: 10.1111/jcmm.13210. View

12.

Stuppia L, Calabrese G, Gatta V, Pintor S, Morizio E, Fantasia D . SHOX mutations detected by FISH and direct sequencing in patients with short stature. J Med Genet. 2003; 40(2):E11. PMC: 1735371. DOI: 10.1136/jmg.40.2.e11. View

13.

Kant S, Cervenkova I, Balek L, Trantirek L, Santen G, de Vries M . A novel variant of FGFR3 causes proportionate short stature. Eur J Endocrinol. 2015; 172(6):763-70. DOI: 10.1530/EJE-14-0945. View

14.

Fanelli A, Vannelli S, Babu D, Mellone S, Cucci A, Monzani A . Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis. Mol Genet Genomic Med. 2021; 10(1):e1793. PMC: 8801136. DOI: 10.1002/mgg3.1793. View