Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 10, 2010, Pages 2475-2481

  Jamal, Seema M ^a   Basran, Raveen K ^a   Newton, Stephanie ^a   Wang, Zhenyuan ^a   Milunsky, Jeff M ^a  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

EFMR; Epilepsy; Intellectual disability; Mental retardation; PCDH19; X linked inheritance

Indexed keywords

ADENINE; CADHERIN; CARNITINE; CYTOSINE; ETIRACETAM; GABAPENTIN; GUANINE; LORAZEPAM; OXCARBAZEPINE; PHENOBARBITAL; PHENYTOIN; PROTOCADHERIN 19; PYRIDOXINE; TYROSINE; UNCLASSIFIED DRUG; VALPROATE SEMISODIUM; DNA; PCDH19 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTISM; CASE REPORT; CHILD; CHILD DEVELOPMENT; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPSY AND MENTAL RETARDATION LIMITED TO FEMALES; FAMILY HISTORY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; STOP CODON; TONIC CLONIC SEIZURE; WECHSLER INTELLIGENCE SCALE; X CHROMOSOMAL INHERITANCE; BIRTH WEIGHT; BLOOD; EUROPE; EXON; GENE AMPLIFICATION; GENETICS; ISOLATION AND PURIFICATION; MALE; MENTAL DEFICIENCY; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; SEXUAL DEVELOPMENT;

ADOLESCENT; BIRTH WEIGHT; CADHERINS; CHILD; CHILD, PRESCHOOL; DNA; EPILEPSY; EUROPE; EXONS; FEMALE; GENE AMPLIFICATION; HUMANS; MALE; MENTAL RETARDATION; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; SEX CHARACTERISTICS;

EID: 78349269886     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33611     Document Type: Article

References (10)

1. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 1992. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51: 1229-1239.
2. Decaux G, Vandergheynst F, Bouko Y, Parma J, Vassart G, Vilain C. 2007. Nephrogenic syndrome of inappropriate antidiuresis in adults: High phenotypic variability in men and women from a large pedigree. J Am Soc Nephrol 18: 606-612 [Epub 2007 January 17].
3. Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Helias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, LeGuern E. 2009. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 5: 10.1371/annotation/314060d5-06da-46e0-b9e4-57194e8ece3a.
4. Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J. 2008. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 40: 776-781.
5. Hynes K, Tarpey P, Dibbens L, Bayly M, Berkovic S, Smith R, Raisi ZA, Turner SK, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gecz J, Scheffer IE. 2010. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. J Med Genet 47: 211-216.
6. Juberg RC, Hellman CD. 1971. A new familial form of convulsive disorder and mental retardation limited to females. J Pediatr 79: 726-732.
7. Ryan SG, Chance PF, Zou CH, Spinner NB, Golden JA, Smietana S. 1997. Epilepsy and mental retardation limited to females: An X-linked dominant disorder with male sparing. Nat Genet 1: 92-95.
8. Scheffer I, Turner S, Dibbens L, Bayly M, Friend K, Hodgson B, Burrows L, Shaw M, Wei C, Ullmann R, Ropers H, Szepetowski P, Haan E, Mazarib A, Afawi Z, Neufeld M, Andrew I, Wallace G, Kivity S, Lev D, Lerman-Sagie T, Derry C, Korczyn A, Gecz J, Mulley J, Berkovic S. 2008. Epilepsy and mental retardation limited to females: An under-recognized disorder. Brain 131: 918-927.
9. Sharp A, Robinson D, Jacobs P. 2000. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet 107: 343-349.
10. Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach K, Adams R, Wieacker P. 2004. Mutations of the Ephrin-B1 gene cause Craniofrontonasal syndrome. Am J Hum Genet 74: 1209-12158.