Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal …

A new interesting article has been published in Mol Genet Genomic Med. 2019 Jul;7(7):e00694. doi: 10.1002/mgg3.694. Epub 2019 May 23. and titled:

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal …

Authors of this article are:

Ben Haj Ali A, Amouri A, Sayeb M, Makni S, Hammami W, Naouali C, Dallali H, Romdhane L, Bashamboo A, McElreavey K, Abdelhak S, Messaoud O.

A summary of the article is shown below:

BACKGROUND: Several studies have shown a high rate of consanguinity and endogamy in North African populations. As a result, the frequency of autosomal recessive diseases is relatively high in the region with the co-occurrence of two or more diseases.METHODS: We report here on a consanguineous Libyan family whose child was initially diagnosed as presenting Fanconi anemia (FA) with uncommon skeletal deformities. The chromosome breakage test has been performed using mitomycin C (MMC) while molecular analysis was performed by a combined approach of linkage analysis and whole exome sequencing.RESULTS: Cytogenetic analyses showed that the karyotype of the female patient is 46,XY suggesting the diagnosis of a disorder of sex development (DSD). By looking at the genetic etiology of FA and DSD, we have identified p.[Arg798*];[Arg798*] mutation in FANCJ (OMIM #605882) gene responsible for FA and p.[Arg108*];[Arg1497Trp] in EFCAB6 (Gene #64800) gene responsible for DSD. In addition, we have incidentally discovered a novel mutation p.[Gly1372Arg];[Gly1372Arg] in the ERCC6 (CSB) (OMIM #609413) gene responsible for COFS that might explain the atypical severe skeletal deformities.CONCLUSION: The co-occurrence of clinical and overlapping genetic heterogeneous entities should be taken into consideration for better molecular and genetic counseling.© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

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This article is a good source of information and a good way to become familiar with topics such as: Comorbidity;autozygosity mapping;genetic counseling;incidental findings;whole exome sequencing.

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