Abstract：
OBJECTIVE: To explore the genetic basis for a patient featuring multiple carboxylase deficiency (MCD).
METHODS: PCR and Sanger sequencing were used to detect variant in the coding region of BT and HLCS genes in the patient. Suspected variants were verified in her parents and 80 unrelated healthy controls by a PCR-restriction fragment length polymorphism (PCR-RFLP) method.
RESULTS: The patient was found to carry compound heterozygous variants of the HLCS gene, namely c.286delG (p.Val96Leufs*162) and c.1648G>A (p.Val550Met). The c.286delG (p.Val96Leufs*162) was verified to be novel variant based on the result of PCR-RFLP analysis. No variant was found in the coding regions of BT gene in the patient.
CONCLUSIONS: The compound c.286delG (p.Val96Leufs*162) and c.1648G>A (p.Val550Met) variants probably underlie the MCD disorder in this patient. Above results have enriched the variant spectrum of MCA.
METHODS: PCR and Sanger sequencing were used to detect variant in the coding region of BT and HLCS genes in the patient. Suspected variants were verified in her parents and 80 unrelated healthy controls by a PCR-restriction fragment length polymorphism (PCR-RFLP) method.
RESULTS: The patient was found to carry compound heterozygous variants of the HLCS gene, namely c.286delG (p.Val96Leufs*162) and c.1648G>A (p.Val550Met). The c.286delG (p.Val96Leufs*162) was verified to be novel variant based on the result of PCR-RFLP analysis. No variant was found in the coding regions of BT gene in the patient.
CONCLUSIONS: The compound c.286delG (p.Val96Leufs*162) and c.1648G>A (p.Val550Met) variants probably underlie the MCD disorder in this patient. Above results have enriched the variant spectrum of MCA.
摘要：
目的：探讨1例多发性羧化酶缺乏症(MCD)患者的遗传基础。
方法：PCR和Sanger测序用于检测患者BT和HLCS基因编码区的变异。通过PCR限制性片段长度多态性（PCR-RFLP）方法，在她的父母和80个无关的健康对照中验证了可疑变异。
结果：患者被发现携带HLCS基因的复合杂合变体，即c.286delG（p。Val96Leufs*162）和c.1648G>A（p。Val550Met）。c.286delG（p。根据PCR-RFLP分析的结果，Val96Leufs*162）被验证为新的变体。患者BT基因编码区未发现变异。
结论：化合物c.286delG（p。Val96Leufs*162）和c.1648G>A（p。Val550Met）变异可能是该患者MCD疾病的基础。以上结果丰富了MCA的变异谱。
方法：PCR和Sanger测序用于检测患者BT和HLCS基因编码区的变异。通过PCR限制性片段长度多态性（PCR-RFLP）方法，在她的父母和80个无关的健康对照中验证了可疑变异。
结果：患者被发现携带HLCS基因的复合杂合变体，即c.286delG（p。Val96Leufs*162）和c.1648G>A（p。Val550Met）。c.286delG（p。根据PCR-RFLP分析的结果，Val96Leufs*162）被验证为新的变体。患者BT基因编码区未发现变异。
结论：化合物c.286delG（p。Val96Leufs*162）和c.1648G>A（p。Val550Met）变异可能是该患者MCD疾病的基础。以上结果丰富了MCA的变异谱。
