Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)

American Journal of Medical Genetics, Part A

Volumn 170, Issue 8, 2016, Pages 2181-2185

  Bi, Weimin ^a   Glass, Ian A ^b   Muzny, Donna M ^a   Gibbs, Richard A ^a   Eng, Christine M ^a   Yang, Yaping ^a   Sun, Angela ^b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

consanguinity; epilepsy; exome sequencing; facial dysmorphism; frameshift mutation; mTOR pathway; neurodevelopmental disorder

Indexed keywords

CORTICOTROPIN; OXCARBAZEPINE; STRAD PROTEIN, HUMAN; VESICULAR TRANSPORT ADAPTOR PROTEIN;

ALEXANDER DISEASE; ARTICLE; CASE REPORT; CHILD; CLONUS; COMPULSION; DEVELOPMENTAL DISORDER; EHMT1 GENE; EPILEPTIC DISCHARGE; EXOME; FACE DYSMORPHIA; FAILURE TO THRIVE; FEEDING DISORDER; GENE; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HYDRAMNIOS; INFANTILE SPASM; JOINT LAXITY; KIDNEY CALCIFICATION; KMT2A GENE; MALE; MUSCLE HYPOTONIA; MUSCLE MASS; NALCN GENE; PHYSICAL EXAMINATION; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTICITY; STRADA GENE; SYMPTOMATIC EPILEPSY; TSC2 GENE; DNA MUTATIONAL ANALYSIS; EPILEPSY; FACIES; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; MEGALENCEPHALY; PEDIGREE; PHENOTYPE; POLYHYDRAMNIOS; PSYCHOMOTOR DISORDERS; SYNDROME;

ADAPTOR PROTEINS, VESICULAR TRANSPORT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPILEPSY; EXOME; FACIES; GENETIC ASSOCIATION STUDIES; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MEGALENCEPHALY; PEDIGREE; PHENOTYPE; PHYSICAL EXAMINATION; POINT MUTATION; POLYHYDRAMNIOS; PSYCHOMOTOR DISORDERS; SYNDROME;

EID: 84969895620     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37727     Document Type: Article

References (4)

1. Parker WE, Orlova KA, Parker WH, Birnbaum JF, Krymskaya VP, Goncharov DA, Baybis M, Helfferich J, Okochi K, Strauss KA, Crino PB. 2013. Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder. Sci Transl Med 5:182ra53.
2. Puffenberger EG, Strauss KA, Ramsey KE, Craig DW, Stephan DA, Robinson DL, Hendrickson CL, Gottlieb S, Ramsay DA, Siu VM, Heuer GG, Crino PB, Morton DH. 2007. Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. Brain 130:1929–1941.
3. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. 2013. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 369:1502–1511.
4. Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. 2014. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312:1870–1879.