A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia

The neuronal migration disorders, X-linked lissencephaly syndrome (XLIS) and subcortical band heterotopia (SBH), also called "double cortex", have been linked to missense, nonsense, aberrant splicing, deletion, and insertion mutations in doublecortin (DCX) in families and sporadic cases. Most DCX mutations identified to date are located in two evolutionarily conserved domains. We performed mutation analysis of DCX in two Korean patients with SBH. The SBH patients had mild to moderate developmental delays, drug-resistant generalized seizures, and diffuse thick SBH upon brain MRI. Sequence analysis of the DCX coding region in Patient 1 revealed a c.386 C>T change in exon 3. The sequence variation results in a serine to leucine amino acid change at position 129 (S129L), which has not been found in other family members of Patient 1 or in a large panel of 120 control X-chromosomes. We report here a novel c.386 C>T mutation of DCX that is responsible for SBH.

A syndrome of familial intrathyroidal primary parathyroid hyperplasia: case reports and critical review of literature

Intrathyroidal hyperplastic parathyroid glands were responsible for primary hyperparathyroidism (PHPT) in two of three members in a family. The third had an extrathyroidal parathyroidal "adenoma". Both intrathyroidal parathyroid (IThP) hyperplastic glands were the largest ones removed at the time of surgical cure. A review of the literature confirmed our postulate of a higher incidence of familial cases among patients with hyperparathyroidism and IThP with an incidence of 10.34% of IThP in familial cases versus a 4.2% in non-familial cases with PHPT. This contrasts with an incidence of 0.1% of IThP in normal patients. We hypothesize that stimulation of IThP tissue by surrounding calcitonin-producing C-cells might play a role in the seemingly preferential IThP hyperplasia. Recognition of this syndrome of Familial IthP Hyperplasia is important in order to avoid unnecessarily aggressive surgery for hyperparathyroidism