Fukuda Yuya, Kudo Yoshimasa, Saito Makoto, Kaname Tadashi, Oota Tohru, Shoji Reikichi
Department of Pediatrics, Steel Memorial Muroran Hospital, Hokkaido, Japan.
Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Hum Genome Var. 2022 Apr 19;9(1):11. doi: 10.1038/s41439-022-00189-7.
We report on a 15-year-old Japanese female patient with hypotonia and global developmental delay from the neonatal period who was revealed to carry a known pathogenic PURA variant (NM_005859.5:c.697_699del, p.Phe233del) by whole-exome sequencing. She had previously unreported clinical features, including a rectovestibular fistula, extremely short stature, and underweight, expanding the known phenotype of PURA syndrome.
我们报告了一名15岁的日本女性患者，自新生儿期起就出现肌张力减退和全面发育迟缓，经全外显子测序发现其携带一种已知的致病性PURA变异（NM_005859.5:c.697_699del，p.Phe233del）。她具有先前未报道的临床特征，包括直肠前庭瘘、身材极矮和体重不足，扩展了已知的PURA综合征表型。
