A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.

Intellectual disability (ID) is a neurodevelopmental disorder characterized by limitations in both intellectual and behavioral functioning. It can occur in non-syndromic and syndromic forms involving multiple organs. While the majority of genetic variants linked to ID are de novo, inherited variants are also detected in some forms. Here, we report a consanguineous Lebanese family presenting with an autosomal recessive syndromic ID characterized by neurodevelopmental delay, mild dysmorphic features, hearing impairment and endocrine dysfunction. Whole exome sequencing enabled the detection of the homozygous nonsense mutation in BOD1, p.R151X, in the proband. BOD1 is required for chromosomes biorientation during cell division. It also contributes to the regulation of cell survival and to the modulation of fatty acid metabolism. Another nonsense mutation in BOD1 was linked to ID in a consanguineous Iranian family. This is the second report of BOD1 mutations in humans and the first in a syndromic ID including gonadal dysfunction and high-frequency hearing impairment. Our findings confirm the involvement of BOD1 in cognitive functioning and expand the clinical spectrum of BOD1 deficiency.

[Autoimmune thyroid disease. Clinical and biological correlations]. / Maladies thyroïdiennes auto-immunes corrélations cliniques et biologiques.

In this article, we analyze the clinical and biological data concerning the autoimmune thyroid diseases in patients recruited in an endocrinology clinic at the university hospital center of Hôtel-Dieu de France between March 2005 and November 2005. We studied 121 patients (51 with Basedow disease and 70 with Hashimoto thyroiditis), between 13 and 68 years old, with a BMI of 24.68 kg/m2 and with a female predominance (105 women). Symptoms of hyperthyroidism represented the most frequent cause of consultation. The distribution of patients regarding their thyroid disease showed that 42.1% of patients had hyperthyroidism (only one patient had subclinical hyperthyroidism), 21.5% had a subclinical hypothyroidism, 28.1% had clinical hypothyroidism and 8.3% had euthyroid goiter. Half of the patients had at least a member of their family whith a thyroid disease. The autoimmune thyroid diseases are strongly associated to other autoimmune diseases and to repetitive spontaneous abortion. Thus, 39% of the married women had had at least one spontaneous abortion and 26.4% of the patients had one or more autoimmune disease associated to their thyroid disease; diabetes mellitus type 1 representing the most frequent one. Concerning the treatment, we remarked a remission of 30 patients (66.7%) with Basedow disease after 18 months of antithyroid drug treatment of 45 patients. In Hashimoto thyroiditis, we remarked a frequent evolution of patients with subclinical hypothyroidism to overt hypothyroidism when medical treatment was not initiated.

[Papillary thyroid microcarcinoma revealed by cervical adenopathy]. / Adénopathie cervicale révélatrice de microcancer papillaire de la thyroïde.

AIM OF THE STUDY: To report retrospectively 5 cases of papillary microcarcinoma of the thyroid revealed by cervical adenopathy with the clinic and histologic characteristics. MATERIAL AND METHOD: Total thyroidectomy and bilateral cervical lymphadenectomy was realized in 5 patients. RESULTS: From 1996 to 2002, 4 females and one man of 33 years old mean age presented for cervical adenopathy. Biopsy confirmed thyroid metastatic nature. The final pathology showed: a papillary microcarcinoma, bilateral and multifocal in 4 patients (80%), bilateral adenopathy in 3 patients (60%). All patients had a radioactive iodine and hormonotherapy postoperatively. The follow-up varied from 12 to 30 months. No metastasis or local recurrence were noted. CONCLUSION: Total thyroidectomy and bilateral cervical lymphadenectomy is the treatment of choice for papillary microcarcinoma of the thyroid presenting as a cervical metastatic adenopathy because it was bilateral and multifocal in 80% of cases with bilateral positive adenopathy in 60% of cases. Radioactive iodine and hormonotherapy postoperatively are recommended.