A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis

被引：12

作者：

Altaraihi, Mays ^{[1
]}

Gerdes, Anne-Marie ^{[1
]}

Wadt, Karin ^{[1
]}

机构：

[1] Copenhagen Univ Hosp, Dept Clin Genet, Rigshosp, Copenhagen, Denmark

来源：

HUMAN GENOME VARIATION | 2019年 / 6卷 / 1期

关键词：

MUTATION; GENE;

D O I：

10.1038/s41439-019-0077-3

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A new family with NTHL1-associated polyposis (NAP) is described, involving a 58-year-old male affected with >100 colorectal polyps and a 55-year-old female sibling with nine colorectal polyps. The female was also diagnosed with a thyroid adenoma at age 40. Significantly, no malignant neoplasms have been detected in this family, which is important to further delineate the clinical phenotype related to NAP. A review of previously reported obligate heterozygous carriers of NTHL1 variants showed two patients affected with neoplasms at <55 years of age, generating a study to outline the phenotypic spectrum in patients with heterozygous pathogenic NTHL1 variants relevant.

引用

页数：3

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