【摘要】 目的提高对Allan-Herndon-Dudley综合征(AHDS)临床表型及基因型的认识。方法回顾分析1例AHDS患儿的临床资料并复习相关文献。结果患儿,男,4月龄,足月剖宫产,出生体质量2.3 kg,就诊时体质量5.6 kg,身长56 cm;双下肢肌张力增高,可瞬间抬头,头部后仰。全外显子测序发现患儿SLC16A2 基因存在c.193delC半合子变异,可导致第65号氨基酸由脯氨酸变为精氨酸并发生移码,在移码后的第19个氨基酸处终止(p.Pro65ArgfsTer19),可能导致蛋白质功能受到严重影响,该变异尚未见报道;家系验证变异遗传自母亲。结论发现导致AHDS的新的SLC16A2 基因c.193delC半合子变异。更多还原

【Abstract】 Objective To improve the understanding of clinical phenotype and genotype of Allan-Herndon-Dudley syndrome (AHDS).Methods The clinical data of one child with AHDS were retrospectively analyzed and the relevant literature was reviewed.Results A four-month-old male patient born at full term by Cesarean section was 2.3 kg weight at birth,and 5.6 kg weight and 56 cm length at visit,The muscle tension of the lower extremities was increased,and the head could be raised instantly and the head was tilted back.Whole exon sequencing revealed a hemizygous mutation of c.193delC in SLC16A2 gene in the child.The mutation has not been reported and it could result in the substitution of proline with arginine in amino acid no.65 and a code shift,and the mutation terminated at the 19th amino acid after the code shift (p.Pro65ArgfsTer19),which might result in a serious impact on the protein function.Family verification showed that the variant was inherited from the mother.Conclusion It is found that the hemizygotic variation of c.193delC in SLC16A2 gene is a novel cause of AHDS.更多还原