Feingold syndrome type 2 in a patient from China

Am J Med Genet A. 2021 Jul;185(7):2262-2266. doi: 10.1002/ajmg.a.62190. Epub 2021 Apr 5.


Feingold syndrome type 2 (FGLDS2, MIM614326) is a genetic congenital malformation syndrome, caused by germline heterozygous deletion of MIR17HG on chromosome 13q31, which is extremely rare worldwide. To date, less than 25 patients have been described in the literature. Here, we report on a 3-year-old girl presented with hip dysplasia, polysyndactyly of the left thumb, brachymesophalangy of the fifth digit, microcephaly, intellectual disability, and growth delay. This is likely to be the first case of Feingold syndrome type 2 ever discovered among Chinese population. Through genetic testing and pedigree analysis, she was identified to have a de novo 4.8-Mb microdeletion at chromosome 13q31.3-q32.1, encompassing MIR17HG, GPC5, and GPC6. Additionally, we detected two common compound heterozygous variants (c.919-2A>G and c.147C>G) in SLC26A4 encoding pendrin protein, as well as a novel heterozygous variant c.985_988del in COMP encoding cartilage oligomeric matrix protein. This case report aims to analyze the microdeletion and the three types of variant detected in the patient, and to explore the association between the genotype and phenotype in patients with Feingold syndrome type 2, which may contribute to further understanding and future diagnosis of this disorder.

Keywords: Feingold syndrome type 2; MIR17HG; microdeletion; pedigree analysis; variants.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cartilage Oligomeric Matrix Protein / genetics
  • Chromosomes, Human, Pair 13 / genetics
  • Eyelids / abnormalities*
  • Eyelids / pathology
  • Genetic Predisposition to Disease*
  • Glypicans / genetics
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Limb Deformities, Congenital / diagnosis
  • Limb Deformities, Congenital / genetics*
  • Limb Deformities, Congenital / pathology
  • Microcephaly / diagnosis
  • Microcephaly / genetics*
  • Microcephaly / pathology
  • RNA, Long Noncoding / genetics*
  • Sulfate Transporters / genetics
  • Tracheoesophageal Fistula / diagnosis
  • Tracheoesophageal Fistula / genetics*
  • Tracheoesophageal Fistula / pathology


  • COMP protein, human
  • Cartilage Oligomeric Matrix Protein
  • GPC5 protein, human
  • GPC6 protein, human
  • Glypicans
  • MIR17HG, human
  • RNA, Long Noncoding
  • SLC26A4 protein, human
  • Sulfate Transporters

Supplementary concepts

  • Oculodigitoesophagoduodenal syndrome