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首页> 外文期刊>Journal of Medical Genetics >New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
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New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

机译：胱氨酸尿症的新见解：40个新突变，基因型-表型相关性和双基因遗传导致部分表型。

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OBJECTIVE: To clarify the genotype-phenotype correlation and elucidate the role of digenic inheritance in cystinuria. METHODS: 164 probands from the International Cystinuria Consortium were screened for mutations in SLC3A1 (type A) and SLC7A9 (type B) and classified on the basis of urine excretion of cystine and dibasic amino acids by obligate heterozygotes into 37 type I (silent heterozygotes), 46 type non-I (hyperexcretor heterozygotes), 14 mixed, and 67 untyped probands. RESULTS: Mutations were identified in 97% of the probands, representing 282 alleles (86.8%). Forty new mutations were identified: 24 in SLC3A1 and 16 in SLC7A9. Type A heterozygotes showed phenotype I, but mutation DupE5-E9 showed phenotype non-I in some heterozygotes. Type B heterozygotes showed phenotype non-I, with the exception of 10 type B mutations which showed phenotype I in some heterozygotes. Thus most type I probands carried type A mutations and all type non-I probands carried type B mutations. Types B and A mutations contributed to mixed type, BB being the most representative genotype. Two mixed cystinuria families transmitted mutations in both genes: double compound heterozygotes (type AB) had greater aminoaciduria than single heterozygotes in their family. CONCLUSIONS: Digenic inheritance is an exception (two of 164 families), with a limited contribution to the aminoaciduria values (partial phenotype) in cystinuria. Further mutational analysis could focus on one of the two genes (SLC3A1 preferentially for type I and SLC7A9 for type non-I probands), while for mixed probands analysis of both genes might be required, with priority given to SLC7A9.
机译：目的：阐明基因型与表型的相关性，阐明双基因遗传在胱氨酸尿症中的作用。方法：从国际半胱氨酸尿症联盟的164名先证者中筛选出SLC3A1（A型）和SLC7A9（B型）中的突变，并根据尿液中胱氨酸和二元氨基酸的排泄，通过专性杂合子将其分类为37种I型（沉默杂合子）。 ，46个非I型（超排泄杂合子），14个混合型和67个未分型的先证者。结果：在97％的先证者中鉴定出突变，代表282个等位基因（86.8％）。鉴定出40个新突变：SLC3A1中为24个，SLC7A9中为16个。 A型杂合子表现出I型，但突变DupE5-E9在某些杂合子表现出非I型。 B型杂合子表现出非I表型，除了10种B型突变外，在某些杂合子中表现出I型。因此，大多数I型先证者携带A型突变，所有非I型先证者携带B型突变。 B型和A型突变是混合型，BB是最具代表性的基因型。两个混合的胱氨酸尿症家族在两个基因中均传播突变：双复合杂合子（AB型）比其家族中的单个杂合子具有更大的氨基酸尿。结论：双基因遗传是一个例外（164个家族中的两个），对胱氨酸尿症的氨基酸尿值（部分表型）的贡献有限。进一步的突变分析可能集中在两个基因之一（对于I型先证者为SLC3A1，对于非I型先证者为SLC7A9），而对于混合先证者，可能需要对两个基因进行分析，其中优先考虑SLC7A9。

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