A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred

作者：Pode Shakked Ben; Marek Yagel Dina; Greenberger Shoshana; Pode Shakked Naomi; Pras Elon; Barzilai Aviv; Yassin Saeed; Sidi Yechezkel; Anikster Yair

来源：European Journal of Medical Genetics, 2015, 58(12): 685-688.

DOI：10.1016/j.ejmg.2015.10.012

• C7orf11
• Trichothiodystrophy
• TTD
• TTDN1
• MPLKIP
• Brittle hair

Trichothiodystrophy (TTD), also known as sulfur-deficient brittle hair syndrome, is a rare autosomal recessive multisystem disorder, which manifests with brittle hair, mental retardation, ichthyosis and decreased fertility. Mutations in the TTDN1 (C7orf11) gene have been shown to cause a nonphotosensitive type of trichothiodystrophy. We report of a 19 years old male, born to consanguineous parents of Arab-Muslim descent, who presented due to severe renal failure, but exhibited additional unique features, including developmental delay, mental retardation, splenomegaly, pancytopenia, hypogonadism and brittle hair. Following the clinical diagnosis of nonphotosensitive TTD, sequencing of the coding exons of C7orf11 was performed and revealed the patient to be homozygous for a novel c.505dupA mutation. As the severe renal failure following which the proband was referred to our care is not typically characteristic of this disorder, its significance is discussed. Molecular diagnosis of this highly affected family should enable genetic counseling and prenatal diagnosis for future pregnancies.

• 出版日期2015-12