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New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance
Author(s) -
Zhang Guoqing,
Cao Ling
Publication year - 2017
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.23760
Subject(s) - medicine , genetics , aminoaciduria , mutation , gene , compound heterozygosity , pediatrics , endocrinology , biology , urine
Lysinuric protein intolerance (LPI) is an inherited aminoaciduria with an autosomal recessive mode of inheritance.The first two cases of sisters being diagnosed with LPI in China is contained within this report. In our cases, there were two heterozygous mutations in the SLC7A7 gene of the two sisters: deletion of c.1387: del C and IVS4+1C>T. One patient was treated with inhaled rGM‐CSF for 1.5 years at 5 μg/kg two times a day. Her condition is improving with no side effects.