z-logo
Premium
Exome sequencing of two patients in a family with atypical X‐linked leukodystrophy
Author(s) -
Tsurusaki Y,
Okamoto N,
Suzuki Y,
Doi H,
Saitsu H,
Miyake N,
Matsumoto N
Publication year - 2011
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2011.01721.x
Subject(s) - exome sequencing , missense mutation , genetics , leukodystrophy , exome , hereditary spastic paraplegia , spastic , biology , medicine , phenotype , bioinformatics , pathology , gene , cerebral palsy , disease , psychiatry
Tsurusaki Y, Okamoto N, Suzuki Y, Doi H, Saitsu H, Miyake N, Matsumoto N. Exome sequencing of two patients in a family with atypical X‐linked leukodystrophy. We encountered a family with two boys similarly showing brain atrophy with reduced white matter, hypoplasia of the brain stem and corpus callosum, spastic paralysis, and severe growth and mental retardation without speaking a word. The phenotype of these patients was not compatible with any known type of syndromic leukodystrophy. Presuming an X‐linked disorder, we performed next‐generation sequencing (NGS) of the transcripts of the entire X chromosome. A single lane of exome NGS in each patient was sufficient. Six potential mutations were found in both affected boys. Two missense mutations, including c.92T>C (p.V31A) in L1CAM , were potentially pathogenic, but this remained inconclusive. The other four could be excluded. Because the patients did not show adducted thumbs or hydrocephalus, the L1CAM change in this family can be interpreted as different scenarios. Personal genome analysis using NGS is certainly powerful, but interpretation of the data can be a substantial challenge requiring a lot of tasks.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here