芳香族L-氨基酸脱羧酶缺乏症一家系临床表现及遗传学分析

Clinical manifestation and genetic analysis of aromatic L-amino acid decarboxylase deficiency in a family

目的探讨芳香族L-氨基酸脱羧酶缺乏症(AADCD)的临床表型及遗传学特点。方法回顾分析1个AADCD家系的临床资料,并复习相关文献。结果家系中2例同胞兄弟均在3月龄发病,主要表现为动眼危象、发育迟缓、肌张力低下、多汗。全外显子测序检测到患儿DDC基因c.714+4(IVS 6)A>T和c.1234(exon 13)C>T复合杂合变异,前者来源于父亲,后者来源于母亲。结论DDC基因c.714+4(IVS 6)A>T和c.1234(exon 13)C>T复合杂合变异的AADCD临床表型常为重型、发病早。

Objective To explore the clinical phenotypic and genetic characteristics of aromatic L-amino acid decarboxylase deficiency(AADCD).Methods The clinical data of one family with AADCD were retrospectively analyzed,and the relevant literature was reviewed.Results The two siblings in the family all had onset at 3 months of age,and the main manifestations were eye movement crisis,developmental retardation,hypotension and hyperhidrosis.A compound heterozygous variants of c.714+4(IVS 6)A>T and c.1234(exon 13)C>T in DDC gene were detected by whole exon sequencing,and the former originated from father and the latter originated from mother.Conclusion The clinical phenotype of AADCD with compound heterozygous variants of c.714+4(IVS 6)A>T and c.1234(exon13)C>T in DDC gene is often severe and has early onset.