Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome
Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome
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DOI：
10.1038/sj.ejhg.5201342
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发表时间：
2005-03-01
影响因子：
5.2
通讯作者：
Labrune, P
中科院分区：
文献类型：
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作者：
Petit, FM;Gajdos, V;Labrune, P
Crigler-Najjar 综合征 I 型 (CN-I) 是一种罕见且严重的常染色体隐性遗传代谢病，由于位于 2 号染色体上的胆红素尿苷二磷酸葡萄糖醛酸基转移酶完全缺乏所致。我们报道了一名患有 CN-I 的儿童，该儿童的苯丙氨酸残基缺失仅遗传自杂合状态下携带该缺失的父亲。细胞遗传学分析显示染色体 2q37 区域没有缺失。对孩子及其父母的微卫星分析与孩子 2 号染色体的父系二倍体一致。该报告表明，单亲二倍体可能是作为常染色体隐性遗传特征传播的非常罕见疾病的起源，并强调在这种情况下需要进行亲本 DNA 分析。
Crigler-Najjar syndrome type I (CN-I) is a rare and severe autosomal recessive metabolic disease due to a total deficiency of bilirubin uridine diphosphate glucuronosyltransferase located on chromosome 2. We report on a child with CN-I due to a phenylalanine residue deletion inherited only from the father carrying this deletion at the heterozygous state. Cytogenetic analyses showed no deletion of the chromosomal 2q37 region. Microsatellite analysis of the child and his parents was consistent with paternal isodisomy for chromosome 2 in the child. This report demonstrates that uniparental disomy may be at the origin of very rare diseases transmitted as autosomal recessive traits and emphasizes the need for parental DNA analysis in such cases.