Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant

Gene

Volumn 559, Issue 2, 2015, Pages 144-148

  Graziano, Claudio ^a   Wischmeijer, Anita ^a,b   Pippucci, Tommaso ^a   Fusco, Carlo ^b   Diquigiovanni, Chiara ^a   Nõukas, Margit ^c   Sauk, Martin ^c   Kurg, Ants ^c   Rivieri, Francesca ^b,d   Blau, Nenad ^e   Hoffmann, Georg F ^e   Chaubey, Alka ^f   Schwartz, Charles E ^f   Romeo, Giovanni ^a   Bonora, Elena ^a   Garavelli, Livia ^b   Seri, Marco ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b S MARIA NUOVA HOSPITAL   (Italy)

^c UNIVERSITY OF TARTU   (Estonia)

^d SANTA CHIARA HOSPITAL   (Italy)

^e UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^f GREENWOOD GENETIC CENTER   (United States)

Author keywords

DDC; Intellectual disability; Whole exome sequencing

Indexed keywords

ARGININE; AROMATIC LEVO AMINO ACID DECARBOXYLASE; CYSTEINE; NEUROTRANSMITTER; DDC PROTEIN, HUMAN;

ADULT; AMINO ACID SUBSTITUTION; AROMATIC AMINO ACID DECARBOXYLASE DEFICIENCY; ARTICLE; BODY TEMPERATURE DISORDER; CASE REPORT; CEREBROSPINAL FLUID; CHRONIC DIARRHEA; CONSANGUINITY; CRANIOFACIAL MALFORMATION; DDC GENE; DYSTONIA; GENE; GENE SEQUENCE; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; HYPERHIDROSIS; INTELLECTUAL IMPAIRMENT; KYPHOSCOLIOSIS; MALE; METABOLIC DISORDER; METABOLITE; MISSENSE MUTATION; MUSCLE HYPOTONIA; OCULOGYRIC CRISIS; PHENOTYPE; PRIORITY JOURNAL; WHOLE EXOME SEQUENCING; YOUNG ADULT; ENZYMOLOGY; GENETICS; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; AROMATIC-L-AMINO-ACID DECARBOXYLASES; BASE SEQUENCE; CONSANGUINITY; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME; YOUNG ADULT;

EID: 84922431765     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2015.01.026     Document Type: Article

References (12)

1. Abeling N.G., Brautigam C., Hoffmann G.F., et al. Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency. J. Inherit. Metab. Dis. 2000, 23:325-328.
2. Boycott K.M., Vanstone M.R., Bulman D.E., MacKenzie A.E. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat. Rev. Genet. 2013, 14:681-691.
3. Brun L., Ngu L.H., Keng W.T., et al. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology 2010, 75:64-71.
4. de Ligt J., Willemsen M.H., van Bon B.W., et al. Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 2012, 367:1921-1929.
5. Magi A., Tattini L., Cifola I., et al. EXCAVATOR: detecting copy number variants from whole-exome sequencing data. Genome Biol. 2013, 14:R120.
6. Magini P., Pippucci T., Tsai I.C., et al. A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. Hum. Mol. Genet. 2014, 23:3607-3617.
7. Musante L., Ropers H.H. Genetics of recessive cognitive disorders. Trends Genet. 2014, 30:32-39.
8. Pons R., Ford B., Chiriboga C.A., et al. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology 2004, 62:1058-1065.
9. Rauch A., Wieczorek D., Graf E., et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012, 380:1674-1682.
10. Thevenon J., Callier P., Poquet H., et al. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder. J. Med. Genet. 2014, 51:21-27.
11. van Bokhoven H. Genetic and epigenetic networks in intellectual disabilities. Annu. Rev. Genet. 2011, 45:81-104.
12. Veltman J.A., Brunner H.G. De novo mutations in human genetic disease. Nat. Rev. Genet. 2012, 13:565-575.