Jian-Dong Chen1, Wei-Dong Liao1, Ling-Ying Wen1, Rong-Hua Zhong2. 1. Department of Neonatology, Longyan First Affiliated Hospital of Fujian Medical University, No.105, Jiyi North Road, Xinluo District, Longyan, 364000, Fujian, China. 2. Department of Neonatology, Longyan First Affiliated Hospital of Fujian Medical University, No.105, Jiyi North Road, Xinluo District, Longyan, 364000, Fujian, China. zrh5628@sina.com.
Abstract
BACKGROUND: Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder most commonly caused by variants in ERCC2. CASE PRESENTATION: Here, we describe the first Chinese patient with a novel variant in ERCC2. A male infant, who was born to a healthy non-consanguineous couple, exhibited brittle hair, hair loss ichthyosis, eczema, retinal pigmentation and hypospadias. He carried a novel heterozygous ERCC2 variant. The maternal variant (c.2191-18_2213del) is a previous described genomic deletion that affects the splicing of intron 22. The paternal variant (c.1666-1G > A), that occurs in the splice site of intron 17 and likely alters ERCC2 gene function through aberrant splicing, has not been reported previously. CONCLUSIONS: Our case reported a novel pathogenic variant in ERCC2, which expanded the known genetic variants associated with TTD.
BACKGROUND:Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder most commonly caused by variants in ERCC2. CASE PRESENTATION: Here, we describe the first Chinese patient with a novel variant in ERCC2. A male infant, who was born to a healthy non-consanguineous couple, exhibited brittle hair, hair loss ichthyosis, eczema, retinal pigmentation and hypospadias. He carried a novel heterozygous ERCC2 variant. The maternal variant (c.2191-18_2213del) is a previous described genomic deletion that affects the splicing of intron 22. The paternal variant (c.1666-1G > A), that occurs in the splice site of intron 17 and likely alters ERCC2 gene function through aberrant splicing, has not been reported previously. CONCLUSIONS: Our case reported a novel pathogenic variant in ERCC2, which expanded the known genetic variants associated with TTD.
Authors: R Moslehi; C Signore; D Tamura; J L Mills; J J Digiovanna; M A Tucker; J Troendle; T Ueda; J Boyle; S G Khan; K-S Oh; A M Goldstein; K H Kraemer Journal: Clin Genet Date: 2009-12-10 Impact factor: 4.438
Authors: Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm Journal: Genet Med Date: 2015-03-05 Impact factor: 8.822