We identified two families with an autosomal-recessive disorder manifested by severe enamel hypoplasia, delayed and failed tooth eruption, misshapen teeth, intrapulpal calcifications, and localized gingival hyperplasia. Genetic analyses identified novel FAM20A mutations associated with the disease phenotype in both families. The proband of Family 1 had an altered splice junction in Intron 1 (g.502011G>C; c.405-1G>C) and a missense mutation in Exon 8 (g.65094G>A; c.1207G>A; p.D403N). The missense mutation is notable because D403 is strictly conserved among FAM20A homologues, and the corresponding defect in FAM20C caused osteosclerotic bone dysplasia and a loss of kinase activity. The proband at age 12 yrs tested negative for nephrocalcinosis. The proband and her affected father in Family 2 were homozygous for a single nucleotide deletion that altered a splice junction in Intron 10 (g.66622del; c.1361+4del). Minigene analyses demonstrated that this alteration precluded normal splicing. Immunohistochemistry (IHC) of mouse maxillary first molars localized FAM20A in secretory-stage ameloblasts, in odontoblasts, and in the eruption pathway. IHC of kidneys localized FAM20A in the renal tubules. We conclude that FAM20A is likely a secretory pathway kinase and that loss-of-function mutations cause pathology where its phosphorylations are necessary for normal development or homeostasis.

This study was designed to determine whether yoga might alleviate symptoms of pain, sleep disturbance, anxiety, and depression in children with cystic fibrosis (CF). CF is the most common genetic, life-limiting chronic disease among Caucasian populations. It primarily affects the lungs but also many other secretory organs and consequently leads to significant morbidities. Research has shown that children with CF have significantly increased depression, anxiety, and pain compared to their healthy counterparts. Subjects participated in six one-on-one sessions over a 10-week period with a certified instructor who designed each yoga practice based on a preestablished list of 30 yoga asanas. Questionnaires evaluating pain, sleep disturbance, sustained anxiety, immediate anxiety, and depression were administered. Differences between premeasures and postmeasures were evaluated using a two-sided test. Twenty subjects were assessed (12 females/8 males), median age of 11 (7–20) years. Mean immediate anxiety scores decreased (before session to after session 29 to 23.6, respectively, p < 0.001). Joint pain improved (3.25 to 3.65, p = 0.028). CFQ-R emotion subscale improved from 79.2 to 85 (p = 0.073), and the respiratory subscale improved from 66.7 to 79.2 (p = 0.076). Other results were less notable. We conclude that yoga may reduce immediate anxiety and joint pain in patients with CF.

Mucopolysaccharidosis type VI

Many children are identified as unaffected carriers for cystic fibrosis (CF) through newborn screening (NBS) programs. The aim of this study was to improve parental understanding of positive NBS results using an educational video in addition to genetic counseling. One hundred parents of infants identified as CF carriers through NBS were randomly assigned by household to either a genetic counseling only group or a genetic counseling and video group. All participants completed a knowledge-based questionnaire before, immediately after, and six weeks following genetic counseling. This included questions about resources accessed before and after the appointment. Seventy-two percent of participants accessed resources on their own prior to genetic counseling; these participants scored significantly higher on the pre-counseling questionnaire (p = 0.03). Post-counseling knowledge scores for both groups significantly improved after genetic counseling (p < 0.001). Post-counseling scores were significantly higher in the video group compared to the non-video group (p = 0.02). Knowledge was retained six weeks following genetic counseling. This study demonstrates the effectiveness of an educational video and reinforces the importance of genetic counseling following positive NBS results for CF.

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