Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype.
PMID 32506314 | DOI 10.1007/s10067-020-05205-1 · Clinical rheumatology · 2020
Genetic defect of phosphatase and tensin homolog (PTEN) gene might play a role in B cell hyperactivity and result in the development of systemic lupus erythematosus (SLE), while transaldolase deficiency has a spectrum of clinical features including autoimmune endocrinopathy. Herein, we identified a novel phenotype in a girl presenting with clinical and laboratory findings consistent with SLE. Exome sequencing identified pathogenic heterozygous variant in PTEN gene (NM_000314: exon 6: c.518G > C: p. R173P) and homozygous variant in TALDO1 gene (NM_006755: exon 6: c.793C del: p. Q265f). Our report highlights the association of PTEN mutation and autoimmunity and the possibility that transaldolase deficiency may be indirectly involved in the development of SLE.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PTEN | “Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype.” | 0.98 | hgnc_dict_v1 |
| gene | TALDO1 | “R173P) and homozygous variant in TALDO1 gene (NM_006755: exon 6: c.793C del: p.” | 0.98 | hgnc_dict_v1 |
| phenotype | systemic lupus erythematosus | “Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | R173P | “R173P) and homozygous variant in TALDO1 gene (NM_006755: exon 6: c.793C del: p.” | 0.82 | literature_variant_regex_v2 |