Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4Omar A Abdul-Rahman
Division of Medical Genetics, Department of Preventive Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA
Am J Med Genet A 140:1567-72. 2006
..Since both LMX1B and TBX4 are involved in a common molecular pathway, it is likely that the causative gene of genitopatellar syndrome functions within the same developmental process...
- Cryptococcal sepsis diagnosed by bone marrow examination
Omar A Abdul-Rahman
Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA
J Pediatr Hematol Oncol 26:526-8. 2004
..The authors describe a child whose diagnosis remained elusive until a bone marrow aspiration, performed as part of an evaluation for suspected neoplasm, revealed the offending organism...
5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2CChristopher W Carr
Department of Medicine, Methodist University Hospital University of Tennessee Health Science Center, Memphis, 38104, USA
Am J Med Genet A 155:1640-5. 2011
..3 neurocutaneous syndrome. This finding highlights the need to assess for CM-AVM in patients with neurologic features consistent with MEF2C haploinsufficiency, and vice versa...
- Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge
Aravindhan Veerapandiyan
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
Am J Med Genet A 155:2186-95. 2011
..Therefore, a high index of suspicion is needed to recognize 22q11DS in African-American individuals...
- Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings
Christopher W Carr
Division of Medical Genetics, Department of Preventive Medicine, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA
Am J Med Genet A 143:2706-11. 2007
..However, no specific airway anomaly has been reported. We suggest that all patients with VDEGS and stridor undergo direct laryngoscopy with consideration for surgical correction...
- Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings
Matthew Vanlandingham
Department of Neurosurgery, University of Mississippi Medical Center, 2500 N State Street, Jackson, MS, 39216 4505, USA
Neurol Sci 29:467-70. 2008
..We review previously reported phenotypes associated with monosomy 4q and partial trisomy 9q and discuss potential mechanisms for these morphological insults with particular emphasis on neuropathology...
- An immunological basis of hyperphagia driven by GABAergic dysfunction in Prader-Willi Syndrome
Ujjwal Rout
Department of Surgery, Physiology and Biophysics, The University of Mississippi Medical Center, Jackson, MS 39216 4505, USA
Med Hypotheses 78:462-4. 2012
..We hypothesize that the emergence and the progression of PWS may be regulated by immune dysfunction involving auto-antibodies and miRNA driven by GABAergic dysfunction. Future research testing this hypothesis is discussed...
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiencyChristopher W Carr
Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA
Eur J Hum Genet 18:1216-20. 2010
..The patient's developmental deficits may support a role for FOXP1 in the development of verbal and motor skills...
- Optic nerve enlargement in Krabbe disease: a pathophysiologic and clinical perspective
Syed A Hussain
Center for Psychiatric Neuroscience, University of Mississippi Medical Center, Jackson, Mississippi 39216 4505, USA
J Child Neurol 26:642-4. 2011
..Although Krabbe disease does not feature in initial differential of optic nerve enlargement in children, its inclusion and early identification facilitate a timely diagnosis of this rapidly progressive fatal disease...
- Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta
Omar A Abdul-Rahman
Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA
J Pediatr Hematol Oncol 31:527-9. 2009
..We propose that hypoplastic glomerulocystic kidney disease and hepatoblastoma represent a possible association, and we excluded mutations in hepatocyte nuclear factor-1beta in our patient as causative of this putative association...
- Large contiguous gene deletions in Sjögren-Larsson syndrome
Holly Engelstad
Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE 68198, USA
Mol Genet Metab 104:356-61. 2011
..Geneticists should consider the possibility of compound heterozygosity for large deletions in patients with SLS and other inborn errors of metabolism, which has implications for carrier testing and prenatal diagnosis...
- X-linked creatine transporter deficiency presenting as a mitochondrial disorder
Samantha C Hathaway
Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA
J Child Neurol 25:1009-12. 2010
..This report looks at the mitochondrial presentation of the creatine transporter deficiency...
- Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome
Silke Schlaubitz
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 143:1071-81. 2007
..This suggests that the locus 9q33-9q34 can be excluded for GPS and that the presented case is unique in its combination of GPS and NPS features caused by a microdeletion associated with loss of function of LMX1B and NR5A1...
