Ayme gripp syndrome in an Indian patient

Am J Med Genet A. 2021 Apr;185(4):1312-1316. doi: 10.1002/ajmg.a.62053. Epub 2021 Jan 1.

Abstract

Ayme Gripp syndrome (OMIM#601088) is a multisystem disorder caused by heterozygous variation in the MAF (OMIM*177075). The typical phenotype comprises a tetralogy of congenital cataract, sensory neural hearing loss, a characteristic facial appearance along with neurodevelopment abnormalities. Exact prevalence estimates are unknown. Only 21 individuals representing 19 families have been reported in the literature till date. To the best of our knowledge, this is the first detailed case report of a boy with Ayme Gripp syndrome from our country. Although he had multiple typical features of the syndrome along with a known pathogenic variation in the MAF, cataract was not observed in him at the age of seven years.

Keywords: Arnold Chiari type 1 malformation; Sensorineural hearing loss; cataract; down syndrome like facies; dystrophic nails.

Publication types

  • Case Reports

MeSH terms

  • Asian People
  • Cataract / genetics*
  • Cataract / pathology
  • Child, Preschool
  • Facies
  • Growth Disorders / genetics*
  • Growth Disorders / pathology
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / pathology
  • Heterozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Male
  • Mutation / genetics
  • Neurodevelopmental Disorders / genetics*
  • Neurodevelopmental Disorders / pathology
  • Phenotype
  • Proto-Oncogene Proteins c-maf / genetics*

Substances

  • MAF protein, human
  • Proto-Oncogene Proteins c-maf

Supplementary concepts

  • Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation