Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome.
Stüve-Wiedemann syndrome (SWS, OMIM 601559) is a rare autosomal recessive bent-bone dysplasia, caused by loss-of-function mutations in the leukemia inhibitory factor receptor (LIFR) gene, which usually leads to early death. Only few patients with long-term survival have been described in the literature. We report on a 5-year-old boy from a consanguineous marriage with molecular analysis for the LIFR gene. Sanger and next-generation sequencing (NGS) of LIFR were performed. Copy number variation analysis with NGS showed a novel mutation as the cause for the syndrome: an intragenic homozygous deletion in LIFR, involving exons 15-20. Bridging PCR was carried out to confirm the intragenic deletion. This is the first description of a large deletion in LIFR, broadening the spectrum of mutations in SWS. Besides the reported allelic heterogeneity, further studies such as exome sequencing are required to identify a novel gene in order to confirm the locus heterogeneity in SWS.
Departamento de Genética, Instituto da Criança, São Paulo, Brazil.
Júlia
J
Hatagami Marques
Departamento de Genética, Instituto da Criança, São Paulo, Brazil ; Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Guilherme
G
Lopes Yamamoto
Departamento de Genética, Instituto da Criança, São Paulo, Brazil.
Larissa
L
de Cássia Testai
Instituto do Coração, Hospital das Clínicas/FMUSP, São Paulo, Brazil.
Alexandre
A
da Costa Pereira
Departamento de Genética, Instituto da Criança, São Paulo, Brazil.
Chong Ae
CA
Kim
Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Maria R
MR
Passos-Bueno
Departamento de Genética, Instituto da Criança, São Paulo, Brazil ; Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Débora
D
Romeo Bertola
LIFR; Next-generation sequencing; Stüve-Wiedemann syndrome