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Case Report

Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis

1
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy
2
Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy
3
Department of Research Laboratories, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy
4
Endocrine Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2021, 22(2), 750; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22020750
Received: 22 December 2020 / Revised: 5 January 2021 / Accepted: 11 January 2021 / Published: 13 January 2021
(This article belongs to the Special Issue Molecular Research in Medical Genetics)
We report on a patient born to consanguineous parents, presenting with Growth Hormone Deficiency (GHD) and osteoporosis. SNP-array analysis and exome sequencing disclosed long contiguous stretches of homozygosity and two distinct homozygous variants in HESX1 (Q6H) and COL1A1 (E1361K) genes. The HESX1 variant was described as causative in a few subjects with an incompletely penetrant dominant form of combined pituitary hormone deficiency (CPHD). The COL1A1 variant is rare, and so far it has never been found in a homozygous form. Segregation analysis showed that both variants were inherited from heterozygous unaffected parents. Present results further elucidate the inheritance pattern of HESX1 variants and recommend assessing the clinical impact of variants located in C-terminal propeptide of COL1A1 gene for their potential association with rare recessive and early onset forms of osteoporosis. View Full-Text
Keywords: HESX1; Q6H; COL1A1; E1361K; osteoporosis; combined pituitary hormone deficiency; CPHD HESX1; Q6H; COL1A1; E1361K; osteoporosis; combined pituitary hormone deficiency; CPHD
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MDPI and ACS Style

Alesi, V.; Dentici, M.L.; Genovese, S.; Loddo, S.; Bellacchio, E.; Orlando, V.; Di Tommaso, S.; Catino, G.; Calacci, C.; Calvieri, G.; Pompili, D.; Ubertini, G.; Dallapiccola, B.; Capolino, R.; Novelli, A. Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis. Int. J. Mol. Sci. 2021, 22, 750. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22020750

AMA Style

Alesi V, Dentici ML, Genovese S, Loddo S, Bellacchio E, Orlando V, Di Tommaso S, Catino G, Calacci C, Calvieri G, Pompili D, Ubertini G, Dallapiccola B, Capolino R, Novelli A. Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis. International Journal of Molecular Sciences. 2021; 22(2):750. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22020750

Chicago/Turabian Style

Alesi, Viola; Dentici, Maria L.; Genovese, Silvia; Loddo, Sara; Bellacchio, Emanuele; Orlando, Valeria; Di Tommaso, Silvia; Catino, Giorgia; Calacci, Chiara; Calvieri, Giusy; Pompili, Daniele; Ubertini, Graziamaria; Dallapiccola, Bruno; Capolino, Rossella; Novelli, Antonio. 2021. "Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis" Int. J. Mol. Sci. 22, no. 2: 750. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22020750

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