Exome sequencing of two patients in a family with atypical X-linked leukodystrophy

Clinical Genetics

Volumn 80, Issue 2, 2011, Pages 161-166

  Tsurusaki, Y ^a   Okamoto, N ^b   Suzuki, Y ^b   Doi, H ^a   Saitsu, H ^a   Miyake, N ^a   Matsumoto, N ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

Author keywords

Atypical phenotype; Exome sequencing; L1CAM; X linked leukodystrophy

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE; THYROTROPIN;

ADOLESCENT; ADULT; ARTICLE; BRAIN ATROPHY; BRAIN STEM; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CORPUS CALLOSUM; DELAYED PUBERTY; GENE; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; GROWTH RETARDATION; HORMONE DETERMINATION; HUMAN; HYPOPLASIA; L1CAM GENE; LEUKODYSTROPHY; MALE; MENTAL DEFICIENCY; MICROCYTIC ANEMIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTIC PARESIS; WHITE MATTER; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; BRAIN STEM; CORPUS CALLOSUM; EXONS; FAMILY; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; HYDROCEPHALUS; LEUKOENCEPHALOPATHIES; MALE; MENTAL RETARDATION; MUTATION; MUTATION, MISSENSE; NEURAL CELL ADHESION MOLECULE L1; PEDIGREE;

EID: 79960221254     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01721.x     Document Type: Article

References (13)

1. Saitsu H, Kato M, Mizuguchi T et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 2008: 40: 782-788.
2. Check Hayden E. Genomics shifts focus to rare diseases. Nature 2009: 461: 458.
3. Biesecker LG. Exome sequencing makes medical genomics a reality. Nat Genet 2010: 42: 13-14.
4. Kuhlenbaumer G, Hullmann J, Appenzeller S. Novel genomic techniques open new avenues in the analysis of monogenic disorders. Hum Mutat 2011: 32: 144-151.
5. Miyake N, Kosho T, Mizumoto S et al. Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum Mutat 2010: 31: 966-974.
6. Ng SB, Bigham AW, Buckingham KJ et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010: 42: 790-793.
7. Li H, Ruan J, Durbin R. Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res 2008: 18: 1851-1858.
8. Nakakimura S, Sasaki F, Okada T et al. Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review. J Pediatr Surg 2008: 43: E13-E17.
9. Rietschel M, Friedl W, Uhlhaas S, Neugebauer M, Heimann D, Zerres K. MASA syndrome: clinical variability and linkage analysis. Am J Med Genet 1991: 41: 10-14.
10. Rosenthal A, Jouet M, Kenwrick S. Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. Nat Genet 1992: 2: 107-112.
11. Viot G, Lacombe D, David A et al. Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet 2002: 107: 1-4.
12. Jenkins ZA, van Kogelenberg M, Morgan T et al. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet 2009: 41: 95-100.
13. Tarpey P, Thomas S, Sarvananthan N et al. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet 2006: 38: 1242-1244.