The absence of mutations in homeobox candidate genes HOXA3, HOXB3, HOXD3 and PITX2 in familial and sporadic thyroid hemiagenesis
-
Marina M.L. Kizys
and Rui M.B. Maciel
Abstract
Background: The molecular mechanisms leading to the formation of the two thyroid symmetrical lobes, which are impaired in thyroid hemiagenesis (TH), are little known.
Objective: The aim of this work was to search for mutations in thyroid developmental candidate genes HOXA3, HOXB3, HOXD3 and PITX2.
Methods: Total DNA from peripheral blood was extracted and then the entire coding region of all these genes was amplified by polymerase chain reaction and direct sequencing.
Results: Herein we describe familial cases of TH in two generations (proband and his father), in addition to other two sporadic cases. We have found polymorphisms in the HOXB3 (rs2229304), HOXD3 (rs34729309, rs1051929, c.543-199G>T and c.543-34G>A; and a new synonymous variant, NP_008829.3:p.314;C>G) and PITX2 (c.45+76C>T) genes, but no deleterious mutations.
Conclusion: These results suggest the existence of other left-right thyroid asymmetry candidate genes in humans such as classical Mendelian mutation-causing disease, as well as other etiopathogenic mechanisms such as epigenetic modifications, especially for sporadic hemiagenesis.
Acknowledgments
The authors thank the team from the Laboratory of Molecular and Translational Endocrinology, especially Fausto G. Neto, as well as Fernando A. Soares and Gilberto Furuzawa, for technical assistance and Angela Faria for secretarial support. The authors’ research is supported by the Sao Paulo State Research Foundation (FAPESP) [2012/01628-0 (MMLK), 2012/02465-8 (MGC), 2011/20747-8 (MRDS) and 2012/00079-3 (RMBM)].
Conflict of interest statement
The authors declare no conflict of interest.
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©2014 by Walter de Gruyter Berlin Boston
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- Plasma leptin and adiponectin concentrations correlate with cardiometabolic risk and systemic inflammation in healthy, non-obese children
- Early differentiation between good and poor response to growth hormone therapy in short children born small for gestational age (SGA) to improve the outcome of poor responders
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- Short communication
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Articles in the same Issue
- Masthead
- Masthead
- Images in pediatric endocrinology
- Leprechaunism (Donohue syndrome): report of a case in a newborn
- Original articles
- Children and adolescents with type 1 diabetes in Germany are more overweight than healthy controls: results comparing DPV database and CrescNet database
- Age of onset of pubertal maturation of Thai boys
- Plasma leptin and adiponectin concentrations correlate with cardiometabolic risk and systemic inflammation in healthy, non-obese children
- Early differentiation between good and poor response to growth hormone therapy in short children born small for gestational age (SGA) to improve the outcome of poor responders
- Children and adolescents with type 1 diabetes mellitus have a sixfold greater risk for prolonged QTc interval
- Effect of micronutrient supplementation on height velocity of underprivileged girls in comparison with un-supplemented healthy controls
- Insulin resistance in young adults born small for gestational age (SGA)
- The effect of childhood obesity on cardiac functions
- Adiponectin serum concentrations in newborn at delivery appear to be of fetal origin
- Thalassaemic Osteopathy: a cross-sectional preliminary study from Sri Lanka
- Health-related quality of life in Turner syndrome and the influence of key features
- Clinical analysis on 33 patients with hypothalamic syndrome in Chinese children
- The relationship between thyroid dose and diagnosis of primary hypothyroidism in pediatric brain tumor patients receiving craniospinal irradiation
- Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome
- Expensive therapies in children: benefit versus cost of combined treatment of recombinant human growth hormone and gonadotropin-releasing hormone analogue in girls with poor height potential
- The absence of mutations in homeobox candidate genes HOXA3, HOXB3, HOXD3 and PITX2 in familial and sporadic thyroid hemiagenesis
- A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism
- Heterozygous GHR gene mutation in a child with idiopathic short stature
- A novel compound mutation of CYP27B1 in a Chinese family with vitamin D-dependent rickets type 1A
- A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism
- Patient reports
- Hypercalcemia and osteolytic lesions as presenting symptoms of acute lymphoblastic leukemia in childhood. The use of zoledronic acid and review of the literature
- Preterm ovarian hyperstimulation syndrome presented with vaginal bleeding: a case report
- Pituitary stalk lesion in a 13-year-old female
- Radiologic manifestation of a BCS1L-mutated patient
- Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene
- NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients
- A teenage boy with hypocalcemia after radioablation for Graves’ disease
- Short communication
- A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect
- Letter to the Editor
- Endometriosis and migraine: what is there behind the scenes?
- 10.1515/jpem-2014-0999