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Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.

ABSTRACT: The diagnosis of rare genetic diseases is one of the most difficult areas in medicine. Whole-exome sequencing (WES) technology makes it easier to diagnose these diseases. In addition, next-generation phenotyping can help to diagnose computer-based algorithms. Detailed dysmorphologic findings of 25 patients diagnosed by WES in our center were described. The success of this technology in diagnosing rare genetic diseases was investigated by scanning the photographs of 25 patients with Face2Gene application. The application listed possible preliminary diagnoses (30 disease suggestion). Of these, 12 (48%) cases were correctly matched. The most common disease group in the patients was neurological disease (96%). The most common mode of inheritance in the patients was autosomal recessive. The rate of consanguineous marriages was determined in 80% of the patients. Ten patients had microcephaly and 7 patients had corpus callosum anomaly. In our study, we found that the success of Face2Gene was lower than described in the literature. We think that the probable cause of this condition is that the cases are very rare, and there is not enough data about these diseases in the application. Therefore, it is recommended that applications should be used more frequently by pediatricians and clinical geneticists. The diagnosis of rare diseases still is quite difficult. Nowadays, WES is a successful method. However, applications such as Face2Gene help to make a clinical prediagnosis and create a larger database.

SUBMITTER: Elmas M

PROVIDER: S-EPMC7109386 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.

Elmas Muhsin M Gogus Basak B

Molecular syndromology 20200201 1

The diagnosis of rare genetic diseases is one of the most difficult areas in medicine. Whole-exome sequencing (WES) technology makes it easier to diagnose these diseases. In addition, next-generation phenotyping can help to diagnose computer-based algorithms. Detailed dysmorphologic findings of 25 patients diagnosed by WES in our center were described. The success of this technology in diagnosing rare genetic diseases was investigated by scanning the photographs of 25 patients with Face2Gene app ...[more]

PMID: 32256296

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Project description:BackgroundFor a number of persons with rare diseases (RDs) a definite diagnosis remains undiscovered with relevant physical, psychological and social consequences. Undiagnosed RDs (URDs) require other than specialised clinical centres, outstanding molecular investigations, common protocols and dedicated actions at national and international levels; thus, many "Undiagnosed RDs programs" have been gradually developed on the grounds of a well-structured multidisciplinary approach.MethodsThe Italian Undiagnosed Rare Diseases Network (IURDN) was established in 2016 to improve the level of diagnosis of persons with URD living in Italy. Six Italian Centres of Expertise represented the network. The National Centre for Rare Diseases at the Istituto Superiore di Sanità coordinates the whole project. The software PhenoTips was used to collect the information of the clinical cases.ResultsOne hundred and ten cases were analysed between March 2016 and June 2019. The age of onset of the diseases ranged from prenatal age to 51 years. Conditions were predominantly sporadic; almost all patients had multiple organs involvements. A total of 13/71 family cases were characterized by WES; in some families more than one individual was affected, so leading to 20/71 individuals investigated. Disease causing variants were identified in two cases and were associated to previously undescribed phenotypes. In 5 cases, new candidate genes were identified, although confirmatory tests are pending. In three families, investigations were not completed due to the scarce compliance of members and molecular investigations were temporary suspended. Finally, three cases (one familial) remain still unsolved. Twelve undiagnosed clinical cases were then selected to be shared at International level through PhenomeCentral in accordance to the UDNI statement.ConclusionsOur results showed a molecular diagnostic yield of 53,8%; this value is comparable to the diagnostic rates reported in other international studies. Cases collected were also pooled with those collected by UDNI International Network. This represents a unique example of global initiative aimed at sharing and validating knowledge and experience in this field. IURDN is a multidisciplinary and useful initiative linking National and International efforts aimed at making timely and appropriate diagnoses in RD patients who still do not have a confirmed diagnosis even after a long time.

Dataset Information

Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.

Publications

Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.

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