PMID- 35702577
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220716
IS  - 2186-3644 (Print)
IS  - 2186-361X (Electronic)
IS  - 2186-3644 (Linking)
VI  - 11
IP  - 2
DP  - 2022 May
TI  - Diagnosing Alstrom syndrome in a patient followed up with syndromic obesity for 
      years.
PG  - 84-86
LID - 10.5582/irdr.2022.01024 [doi]
AB  - Alstrom syndrome (AS) is a rare autosomal recessive monogenic disorder caused by 
      mutations of the Alstrom syndrome 1 (ALMS1) gene, located on chromosome 2p13. It 
      is a progressive multisystemic disease characterized mostly by obesity, 
      sensorineural hearing loss, visual impairments, cardiomyopathy, insulin 
      resistance and/or type 2 diabetes mellitus (T2DM), metabolic dysfunctions, 
      non-alcoholic fatty liver disease, and chronic progressive kidney disease. 
      Generally, the first clinical symptoms of the disease appear in the first years 
      of life with a major variation of onset age. In this study, we aimed to examine 
      the molecular diagnosis of a 6-year-old patient with suspected AS clinical 
      symptoms. After applying clinical exome sequencing (CES) in the patient we found 
      a homozygous deletion in exon 8 at the ALMS1 gene (c.2311_2312del). We identified 
      a homozygous frameshift mutation. The reported variant was pathogenic according 
      to the criteria of the American College of Medical Genetics and Genomics (ACMG). 
      Thus, the patient was diagnosed with AS as a result of the combined clinical 
      phenotype and genetic tests results. We hope the variant we found can expand the 
      spectrum of ALMS1 variants in AS.
CI  - 2022, International Research and Cooperation Association for Bio & Socio - 
      Sciences Advancement.
FAU - Yakubi, Mustafa
AU  - Yakubi M
AD  - Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 
      Turkey.
FAU - Cicek, Dilek
AU  - Cicek D
AD  - Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, 
      Turkey.
FAU - Demir, Mikail
AU  - Demir M
AD  - Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 
      Turkey.
FAU - Yildirim, Abdulbaki
AU  - Yildirim A
AD  - Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 
      Turkey.
FAU - Hatipoglu, Nihal
AU  - Hatipoglu N
AD  - Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, 
      Turkey.
FAU - Ozkul, Yusuf
AU  - Ozkul Y
AD  - Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 
      Turkey.
FAU - Dundar, Munis
AU  - Dundar M
AD  - Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 
      Turkey.
LA  - eng
PT  - Journal Article
PL  - Japan
TA  - Intractable Rare Dis Res
JT  - Intractable & rare diseases research
JID - 101586847
PMC - PMC9161128
OTO - NOTNLM
OT  - ALMS1 gene
OT  - biallelic mutations
OT  - obesity
OT  - rare diseases
COIS- The authors have no conflicts of interest to disclose.
EDAT- 2022/06/16 06:00
MHDA- 2022/06/16 06:01
PMCR- 2022/05/01
CRDT- 2022/06/15 02:14
PHST- 2022/02/10 00:00 [received]
PHST- 2022/04/13 00:00 [revised]
PHST- 2022/04/20 00:00 [accepted]
PHST- 2022/06/15 02:14 [entrez]
PHST- 2022/06/16 06:00 [pubmed]
PHST- 2022/06/16 06:01 [medline]
PHST- 2022/05/01 00:00 [pmc-release]
AID - 10.5582/irdr.2022.01024 [doi]
PST - ppublish
SO  - Intractable Rare Dis Res. 2022 May;11(2):84-86. doi: 10.5582/irdr.2022.01024.