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BMC Med Genet. 2017 Jul 19;18(1):75. doi: 10.1186/s12881-017-0418-3.

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.

Author information

1
Division of Endocrinology, Genetics and Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China.
2
Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Shanghai, China.
3
Department of Biostatistics and Computational Biology, Life Science, Fudan University, Shanghai, China.
4
Division of Respiration, Children's Hospital of Fudan University, Shanghai, China.
5
BGI technology, Shanghai, China.
6
Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Shanghai, China. zwhchfu@126.com.
7
Department of Biostatistics and Computational Biology, Life Science, Fudan University, Shanghai, China. zwhchfu@126.com.
8
Key Laboratory of Neonatal Diseases, Ministry of Health, Children's Hospital of Fudan University, Shanghai, China. zwhchfu@126.com.
9
Department of Neonates, Children's Hospital, Fudan University, 399 Wan Yuan Road, Shanghai, China, 201102. zwhchfu@126.com.

Abstract

BACKGROUND:

Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and renal failure.

CASE PRESENTATION:

A Chinese quartet family with two siblings predominantly affected by cone-rod dystrophy and short stature were recruited. The craniofacial dysmorphism and on-set age-of-cone-rod dystrophy in the proband showed a minor intrafamilial variability. Whole genome sequencing was performed to provide the full spectrum of the two siblings' genetic variations. In this study, we present the patients' clinical features and our interpretation of the whole genome sequencing data. After examining the data, we focus on two compound heterozygous mutations, (c.3902C > A, p.S1301X; c.6436C > T, p.R2146X) in ALMS1, which are shared by two siblings.

CONCLUSION:

We reported a novel ALMS1 mutation. Whole genome sequencing is a powerful tool to provide the full spectrum of genetic variations for heterogeneous disorders such as Alström syndrome.

KEYWORDS:

ALMS1 gene; Alström syndrome; Cone-rod dystrophy; Whole genome sequencing

PMID:
28724398
PMCID:
PMC5518093
DOI:
10.1186/s12881-017-0418-3
[Indexed for MEDLINE]
Free PMC Article

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