Trichothiodystrophy type 4 in an Indian family

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2 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)2226-2229
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number10
Publication statusPublished - 01-10-2020

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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