Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene.
Front Endocrinol (Lausanne)
; 12: 770871, 2021.
Article
en En
| MEDLINE
| ID: mdl-35002959
ABSTRACT
Woodhouse-Sakati syndrome (WSS) (OMIM#241080) is a rare multi-system autosomal recessive disease with homozygous mutation of the DCAF17 gene. The main features of WSS include diabetes, hypogonadism, alopecia, deafness, intellectual disability and progressive extrapyramidal syndrome. We identified a WSS family with a novel DCAF17 gene mutation type in China. Two unconsanguineous siblings from the Chinese Han family exhibiting signs and symptoms of Woodhouse-Sakati syndrome were presented for evaluation. Whole-exome sequencing revealed a homozygous deletion NM_025000.4c.1488_1489delAG in the DCAF17 gene, which resulted in a frameshift mutation that led to stop codon formation. We found that the two patients exhibited low insulin and C-peptide release after glucose stimulation by insulin and C-peptide release tests. These findings indicate that the DCAF17 gene mutation may cause pancreatic ß cell functional impairment and contribute to the development of diabetes.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Arritmias Cardíacas
/
Enfermedades de los Ganglios Basales
/
Proteínas Nucleares
/
Eliminación de Secuencia
/
Complejos de Ubiquitina-Proteína Ligasa
/
Diabetes Mellitus
/
Alopecia
/
Hipogonadismo
/
Discapacidad Intelectual
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Front Endocrinol (Lausanne)
Año:
2021
Tipo del documento:
Article
País de afiliación:
China