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Exome-first approach identified a novel gloss deletion associated with Lowe syndrome.

ABSTRACT: Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically caused by missense or nonsense/frameshift OCRL mutations. We report a 6-month-old male clinically suspected to have LS, but without the Fanconi-type renal dysfunction. Using a targeted-exome sequencing-first approach, LS was diagnosed by the identification of a deletion involving 1.7?Mb at Xq25-q26.1, encompassing the entire OCRL gene and neighboring loci.

SUBMITTER: Watanabe M 

PROVIDER: S-EPMC5103007 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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Exome-first approach identified a novel gloss deletion associated with Lowe syndrome.

Watanabe Miki M   Nakagawa Ryuji R   Kohmoto Tomohiro T   Naruto Takuya T   Suga Ken-Ichi KI   Goji Aya A   Horikawa Hideaki H   Masuda Kiyoshi K   Kagami Shoji S   Imoto Issei I  

Human genome variation 20161110

Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically caused by missense or nonsense/frameshift <i>OCRL</i> mutations. We report a 6-month-old male clinically suspected to have LS, but without the Fanconi-type renal dysfunction. Using a targeted-exome sequencing-first approach, LS was diagnosed by the identification of a deletion involving 1.7 Mb at Xq25-q26.1, encompassing the entire <i>OCRL</i> gene and neighboring loci. ...[more]

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