Trichothiodystrophy type 4 in an Indian family

Am J Med Genet A. 2020 Oct;182(10):2226-2229. doi: 10.1002/ajmg.a.61794. Epub 2020 Aug 17.


Trichothiodystrophy, non-photosensitive type 4 (TTD4), is a rare genetic disorder with an autosomal recessive mode of inheritance. It is characterized by coarse and brittle hair, anomalies of the tissues derived from the neuro-ectoderm (skin, hair, and nails) and intellectual disability. We herein report two male siblings aged 13 and 16 years with TTD4 and a known homozygous pathogenic variant, c.229del [p.(Arg77Glyfs*76)] in exon 1 of MPLKIP (NM_138701.3). We herein highlight the clinical and molecular findings of the first reported case of TTD4 in probands of Indian ethnicity.

Keywords: MPLKIP; autosomal recessive; brittle hair; trichothiodystrophy.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adolescent
  • Exons / genetics
  • Genetic Predisposition to Disease
  • Hair / pathology
  • Hair Diseases / genetics*
  • Hair Diseases / pathology
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology
  • Male
  • Nails / pathology
  • Skin / pathology
  • Trichothiodystrophy Syndromes / genetics*
  • Trichothiodystrophy Syndromes / pathology


  • Adaptor Proteins, Signal Transducing
  • MPLKIP protein, human