Rothmund-Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations.

ABSTRACT:

Background

Rare syndromic skin disorders may represent a diagnostic challenge.

Aims

We report a unique case associating cutaneous manifestations and developmental delay.

Materials & methods

The affected 14 months old boy had poikiloderma, facial dysmorphism with deep-set eyes, atrichia, as well as nail dysplasia and non-descended testes. In addition, his psychomotor development was delayed. Exome sequencing and molecular karyotyping via array-CGH (oligo-array, 180k Agilent, design 22060) were performed.

Results

Mutations in RECQL4 (found in patients with RTS2) were first excluded. In the ANAPC1 gene, a novel combination of a recurrent intronic mutation (c.2705-198C>T) and a deletion of the second ANAPC1 allele was detected, thus confirming the clinical diagnosi

SUBMITTER: Zirn B 

PROVIDER: S-EPMC9060067 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature