A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects
-
Hakan Cangul
,
Veysel N. Bas
Abstract
Congenital hypothyroidism (CH), one of the most important preventable causes of mental retardation, is a clinical condition characterized by thyroid hormone deficiency in newborns. CH is most often caused by defects in thyroid development leading to thyroid dysgenesis. The thyroid-stimulating hormone receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with CH. In this study, we aim to determine the genetic alteration in a case with congenital hypothyroidism and heart defects coming from a consanguineous family. We utilized genetic linkage analysis and direct sequencing to achieve our aim. Our results revealed that the family showed linkage to the TSHR locus, and we detected a homozygous nonsense mutation (R609X) in the case. Apart from other cases with the same mutation, our case had accompanying cardiac malformations. Although cardiac malformations are not uncommon in sporadic congenital hypothyroidism, here, they are reported for the first time with R609X mutation in a familial case.
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©2014 by De Gruyter
Articles in the same Issue
- Frontmatter
- Highlight: Cushing syndrome
- Fundamental principles of clinical and biochemical evaluation underlie the diagnosis and therapy of Cushing’s syndrome
- Cushing syndrome secondary to CRH-producing Wilms tumor in a 6 year old
- Cushing’s disease presenting as cholestatic hepatitis
- How early can one diagnose Cushing’s disease? An early diagnosis in a case of prepubertal Cushing’s disease
- Review article
- Subclinical hypothyroidism in childhood and adolescense
- Original articles
- Energy substrate metabolism in pyruvate dehydrogenase complex deficiency
- Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia
- Measures of pituitary gland and stalk: from neonate to adolescence
- Are preterm newborns who have relative hyperthyrotropinemia at increased risk of brain damage?
- Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification
- Association of serum 25-hydroxyvitamin D with race/ethnicity and constitutive skin color in urban schoolchildren
- A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects
- Acanthosis nigricans, vitamin D, and insulin resistance in obese children and adolescents
- Clinical characteristics and chromosome 11p15 imprinting analysis of Silver-Russell syndrome – a Chinese experience
- Change in reference body mass index percentiles and deviation in overweight and obesity over 3 years in Turkish children and adolescents
- Long-term outcomes of pediatric Graves’ disease
- Accessibility of the reference center as a protective factor against ketoacidosis at the onset of diabetes in children
- Vitamin D, parathormone, and insulin resistance in children born large for gestational age
- Prevalence of vitamin D deficiency in apparently healthy children in north India
- Prevalence of autoantibodies in type 1 diabetes patients and its association with the clinical presentation – UAE Eastern Region experience
- Clinical and molecular studies related to bone metabolism in patients with congenital adrenal hyperplasia
- Islet neogenesis-associated protein-related pentadecapeptide improves the function of allograft after islets transplantation
- Anti-Mullerian hormone may be a useful adjunct in the diagnosis of polycystic ovary syndrome in nonobese adolescents
- Early infant feeding practice and childhood obesity: the relation of breast-feeding and timing of solid food introduction with childhood obesity
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- Concentrations of tumour necrosis factor-α and its soluble receptors in the serum of teenagers with atherosclerosis risk factors: obesity or obesity combined with hypertension
- Are HDL levels lower in children with type 1 diabetes and concurrent celiac disease compared with children with type 1 diabetes only?
- Patient reports
- Hereditary vitamin D rickets: a case series in a family
- Two heterozygous mutations of the AMH gene in a Japanese patient with persistent Müllerian duct syndrome
- Two case reports of severe pediatric hyperosmolar hyperglycemia and diabetic ketoacidosis accompanied with rhabdomyolysis and acute renal failure
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- Congenital hyperinsulinism in a newborn with a novel homozygous mutation (p.Q392H) in the ABCC8 gene
- Short communications
- Polyglandular autoimmune syndrome type I – a novel AIRE mutation in a North American patient
- Post-hemorrhagic hydrocephalus and diabetes insipidus in preterm infants
- Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease
- Letter to the Editor
- And what about septin 9 (SEPT9) as a binding partner of survivin in heart regeneration?
Articles in the same Issue
- Frontmatter
- Highlight: Cushing syndrome
- Fundamental principles of clinical and biochemical evaluation underlie the diagnosis and therapy of Cushing’s syndrome
- Cushing syndrome secondary to CRH-producing Wilms tumor in a 6 year old
- Cushing’s disease presenting as cholestatic hepatitis
- How early can one diagnose Cushing’s disease? An early diagnosis in a case of prepubertal Cushing’s disease
- Review article
- Subclinical hypothyroidism in childhood and adolescense
- Original articles
- Energy substrate metabolism in pyruvate dehydrogenase complex deficiency
- Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia
- Measures of pituitary gland and stalk: from neonate to adolescence
- Are preterm newborns who have relative hyperthyrotropinemia at increased risk of brain damage?
- Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification
- Association of serum 25-hydroxyvitamin D with race/ethnicity and constitutive skin color in urban schoolchildren
- A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects
- Acanthosis nigricans, vitamin D, and insulin resistance in obese children and adolescents
- Clinical characteristics and chromosome 11p15 imprinting analysis of Silver-Russell syndrome – a Chinese experience
- Change in reference body mass index percentiles and deviation in overweight and obesity over 3 years in Turkish children and adolescents
- Long-term outcomes of pediatric Graves’ disease
- Accessibility of the reference center as a protective factor against ketoacidosis at the onset of diabetes in children
- Vitamin D, parathormone, and insulin resistance in children born large for gestational age
- Prevalence of vitamin D deficiency in apparently healthy children in north India
- Prevalence of autoantibodies in type 1 diabetes patients and its association with the clinical presentation – UAE Eastern Region experience
- Clinical and molecular studies related to bone metabolism in patients with congenital adrenal hyperplasia
- Islet neogenesis-associated protein-related pentadecapeptide improves the function of allograft after islets transplantation
- Anti-Mullerian hormone may be a useful adjunct in the diagnosis of polycystic ovary syndrome in nonobese adolescents
- Early infant feeding practice and childhood obesity: the relation of breast-feeding and timing of solid food introduction with childhood obesity
- Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1
- The correlation between GnRH stimulation testing and obstetric ultrasonographic parameters in precocious puberty
- The DATAC study: a new growth database. Description of the epidemiology, diagnosis and therapeutic attitude in a group of Spanish children with short stature
- Concentrations of tumour necrosis factor-α and its soluble receptors in the serum of teenagers with atherosclerosis risk factors: obesity or obesity combined with hypertension
- Are HDL levels lower in children with type 1 diabetes and concurrent celiac disease compared with children with type 1 diabetes only?
- Patient reports
- Hereditary vitamin D rickets: a case series in a family
- Two heterozygous mutations of the AMH gene in a Japanese patient with persistent Müllerian duct syndrome
- Two case reports of severe pediatric hyperosmolar hyperglycemia and diabetic ketoacidosis accompanied with rhabdomyolysis and acute renal failure
- Acquired hypothyroidism due to iodine deficiency in an American child
- Continuous subcutaneous IGF-1 therapy via insulin pump in a patient with Donohue syndrome
- Amylase/creatinine clearance ratio in diabetic ketoacidosis: a case report
- Worsening hypertriglyceridemia with oral contraceptive pills in an adolescent with HIV-associated lipodystrophy: a case report and review of the literature
- Congenital hyperinsulinism in a newborn with a novel homozygous mutation (p.Q392H) in the ABCC8 gene
- Short communications
- Polyglandular autoimmune syndrome type I – a novel AIRE mutation in a North American patient
- Post-hemorrhagic hydrocephalus and diabetes insipidus in preterm infants
- Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease
- Letter to the Editor
- And what about septin 9 (SEPT9) as a binding partner of survivin in heart regeneration?
