Citations 4
Clinical, Genetic, and Endocrine Features of Bardet‐Biedl Syndrome in a Pediatric and Adult Cohort
Hassan, Doha , Salama, Mostafa , Muthusamy, Kalpana , Haqq, Andrea M., Scruggs, Brittni A. , Lanpher, Brendan C. , Tan, Queenie K.‐G. , Cramer, Carl H. , Rabatin, Amy E. , Koball, Afton M. , Darr, Kahlen , Bratcher, Paul M., Lamothe, Kathleen, Tenley, Jennifer B., Kumar, Seema , Tan, Queenie K-G , Biggs, Bridget K , Rabatin, Amy E , Koball, Afton , Schimmenti, Lisa A , Kumar, Seema , Salama, Mostafa , Scruggs, Brittni A , Cramer, Carl H , Haqq, Andrea M. , Biggs, Bridget K. , Schimmenti, Lisa A.
American Journal of Medical Genetics Part A | August 14, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available
ABSTRACT Bardet‐Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by clinical and genetic heterogeneity. Data on the prevalence of clinical manifestations and comorbidities in BBS, particularly in pediatric patients, are limited. This study aimed to assess the prevalence and various manifestations of endocrine and other clinical comorbidities among pediatric and adult patients with BBS. This retrospective chart review included pediatric and adult patients with BBS evaluated at an academic tertiary care center in the United States between 2000 and 2024. The study included 31 patients (7 children and 24 adults) with seven identified pathogenic variants associated with BBS. The most common genetic etiology was biallelic variants in BBS1 (36%). Obesity was diagnosed in 86% of children and 100% of adults. No children had diabetes or prediabetes, whereas 46% of adults were affected. Dyslipidemia was identified in 29% of children and 46% of adults. No thyroid abnormalities were identified in children, whereas 25% of adults were affected. Retinal dystrophy was present in 71% of children and 96% of adults. Polydactyly was observed in 100% of children and 75% of adults. Chronic kidney disease was present in 29% of children and 63% of adults. This study highlights the clinical heterogeneity and substantial multisystem burden of BBS across pediatric and adult patients. The greater prevalence of diabetes/prediabetes, dyslipidemia, thyroid abnormalities, chronic kidney disease, and visual impairment among adults suggests that these complications may emerge or progress over time. Early recognition, proactive longitudinal surveillance, and comprehensive multidisciplinary care are essential to optimize management across the lifespan.
Clinical Utility of Rapid Whole-Genome Sequencing in Hospitalized Adults With Unexplained Neurologic Presentations
Amanat, Man , Toledano, Michel , Schimmenti, Lisa A. , Pichurin, Pavel N. , Lanpher, Brendan C. , Deyle, David R. , Tan, Queenie K.‐G. , Iverson, Gabrielle , Cera, Alanna, Gavrilova, Ralitza H. , Gavrilova, Ralitza , Dhamija, Radhika , Tan, Queenie K-G , Schimmenti, Lisa A , Cera, Alanna, Dhamija, Radhika
Neurology | June 16, 2026 | Volume: 107 | Issue: 1 | Pages: No page available
SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib
Banks, Samantha A. , Abeykoon, Jithma P. , Rech, Karen L. , Morris, Pearse , Tan, Queenie K.‐G. , Veres, Larissa N., Schoonover, Kimberly , Aksamit, Allen J. , Keating, Gesina F. , Kissoon, Narayan , Sominidi‐Damodaran, Sindhuja , Maredia, Hasina , Davidge‐Pitts, Caroline , Rech, Karen , Schoonover, Kimberly L , Maredia, Hasina S, Go, Ronald S , Tobin, W Oliver , Tan, Queenie K-G , Kissoon, Narayan R , Banks, Samantha , Veres, Larissa N., Villasboas, José C. , Go, Ronald S. , Tobin, W. Oliver
Neurology Genetics | October 14, 2024 | Volume: 10 | Issue: 6 | Pages: No page available
Liver transplantation for pediatric genetic and metabolic disorders
Hassan, Sara , Anouti, Ahmad , Tan, Queenie K-G , Wangensteen, Kirk J. , Aqul, Amal , Tan, Queenie K.‐G. , Aqul, Amal , Wangensteen, Kirk J , Hassan, Sara
Liver Transplantation | August 23, 2024 | Volume: 31 | Issue: 6 | Pages: 803-814
Pediatric genetic and metabolic liver diseases comprise a broad spectrum of conditions and represent the second most common indication for liver transplantation following biliary atresia. The decision to transplant can be challenging and requires consideration of several factors, including hepatic involvement, extrahepatic manifestations, and anticipated posttransplant outcomes. This review examines pediatric genetic and metabolic liver diseases, their pathophysiology, clinical presentation, and the role of liver transplantation.