Bardet-Biedl syndrome (BBS) is a rare autosomal recessive or triallelic ciliopathy disorder characterized by obesity, male hypogonadism, renal impairment, polydactyly, and intellectual disability. We present a case report of an African-American male with excessive weight gain and prediabetes who was referred to Genetics at 2½ years of age. Physical exam findings included obesity, macrocephaly, bilateral macrotia, brachydactyly, and small genitalia. Gene sequencing identified two mutations highly suggestive of BBS: a heterozygous variant in the CEP290 gene (c.4393 C>T) and a heterozygous variant in the TTC8 gene (c.1021 C>T). Twenty-one genes have been associated with the 21 types of BBS to date, all demonstrating variable expressivity and incomplete penetrance. There is no cure for BBS, and current management focuses on preventing and treating symptoms. CEP290 mutations are associated with BBS type 14, and only 1% of affected individuals carry a mutation on this gene. TTC8 mutations are associated with BBS type 8, and its gene frequency is also 1% in individuals with BBS. The TTC8 variant found in our propositus (p.Arg341Trp) has not been previously reported in the Human Gene Mutation Database. In this variant, tryptophan replaces the normal arginine at position 341 of the TTC8 protein. To our knowledge, this is the first report linking this specific TTC8 variant with BBS.
Keywords: Bardet-Biedl Syndrome, Ciliopathy disorder, Childhood obesity, Genetic obesity, CEP290, TTC8
Objective: To enhance student appreciation for collaboration/team-based care through participation in an interprofessional (IP) history-taking opportunity with individuals diagnosed with Parkinson's disease (PD).
Methods:Eighty-eight self-selected students from Louisiana State University Health-New Orleans and Xavier University College of Pharmacy participated in an IP elective course which included conducting an IP interview with a PD patient. To assess student perspectives regarding the IP interview, the students completed a thirteen item survey and reflection assignment.Results: Eighty-six students completed the survey and twenty-four completed the reflection assignment. 95% of students agreed the team-based interview and the development of an IP plan of care increased their awareness of the multiple perspectives to consider in designing a care plan. The Kruskal-Wallis test indicated a statistically significant difference among programs for survey question numbers two and four. All four IP education competencies (value and ethics, roles/responsibilities, interprofessional communication, teams and teamwork) were highlighted in the reflection assignment.
Conclusions:The IP interview allowed students to gain knowledge of PD, better understand the role of other disciplines, and create a holistic plan of care.
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