A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree [3]

Clinical Genetics

Volumn 70, Issue 5, 2006, Pages 420-423

  Karim, M A ^a   Parsian, A J ^a   Cleves, M A ^a   Bracey, J ^a   Elsayed, M S ^b   Elsobky, E ^b   Parsian, Abbas ^a  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^b AIN SHAMS UNIVERSITY   (Egypt)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CHROMOSOME PROTEIN; CYSTEINE; GENOMIC DNA; GLUTAMINE; PROTEIN BAP; PROTEIN SIL1; THREONINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; CASE REPORT; CHROMOSOME 18; CHROMOSOME 5Q; CHROMOSOME MARKER; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; EGYPT; EXON; FAMILY STUDY; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LETTER; MALE; MARINESCO SJOGREN SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; STOP CODON;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; EGYPT; FEMALE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; SPINOCEREBELLAR DEGENERATIONS;

EID: 33749478488     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00695.x     Document Type: Letter

References (13)

1. Marinesco G, Draganesco S, Vasiliu D. Novelle maladie familiale caracterisee par Une cataracte congenitale et un arret du development somato-neuro-phychique. Lencephale 1931: 26: 97-109.
2. Sjogren T. Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation. Confin Neurol 1950: 10: 293-308.
3. Lagier-Tourenne C, Tranebjaerg L, Chaigne D et al. Homozygosity mapping of Marinesco-Sjogren syndrome to 5q31. Eur J Hum Genet 2003: 11: 770-778.
4. Lagier-Tourenne C, Chaigne D, Gong J et al. Linkage to 18qter differentiates two clinically overlapping syndromes: Congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome. J Med Genet 2002: 39: 838-843.
5. Angelicheva D, Turnev I, Dye D, Chandler D, Thomas PK, Kalaydjieva L. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: A novel developmental disorder in Gypsies maps to 18qter. Eur J Hum Genet 1999: 7: 560-566.
6. Varon R, Gooding R, Steglich C et al. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet 2003: 35: 185-189.
7. Senderek J, Krieger M, Stendel C et al. Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet 2005: 37: 1312-1314.
8. Anttonen AK, Mahjneh I, Hamalainen RH et al. The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet 2005: 37: 1309-1311.
9. Zhao L, Longo-Guess C, Harris BS, Lee JW, Ackerman SL. Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP. Nat Genet 2005: 37: 974-979.
10. Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984: 36: 460-465.
11. Lange K, Cantor R, Horvath S et al. Mendel version 4.0: A complete package for the exact genetic analysis of discrete traits in pedigree and population data sets. Am J Hum Genet 2001: 9 (Suppl.): A1886.
12. Parsian A, Racette B, Zhang ZH et al. Mutation, sequence analysis, and association studies of alpha-synuclein in Parkinson's disease. Neurology 1998: 51: 1757-1759.
13. Chung KY, Shen Y, Hendershot LM. BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP. J Biol Chem 2002: 277: 47557-47563.