New syndrome associated to variants in the GLDN gene

[Orphanet-ES]

Dear all,

We have recently received a request to create a new entry in Orphanet related to a syndrome associated to variants in the GLDN gene. The request comes from the mother of a 7 years old boy, but it is backed up by the physician attending this child, Dr. Daniel Natera de Benito (https://orcid.org/0000-0001-7764-2085), a neuropediatrician from the Sant Joan de Deu Hospital in Barcelona. According to him, there are a few cases described all over the world and he has sent us the following publication for your reference. https://pubmed.ncbi.nlm.nih.gov/28726266/ Dr. Natera de Benito also plans to publish the case ASAP.

Thank you in advance and kind regards,

María Elena

P.S.: Sorry for those who are not interested, but I never know who I have to assign the topics to.

[MCecile-US14]

Dear Maria Elena,

Thank you and no worries I will update the 'read me' page with all assignees and their role [here] to clarify now the team is more complete (https://github.com/OD4RD/Main-Help-Desk#readme). I am doing the dispatch and answer most Nomenclature related requests so you can always assign to me :) As for now: @MCecile-US14 any requests about Orphanet Nomenclature and Helpdesk for National Hubs, I will redirect to the specific manager @JTorphanet, Julie is in charge of alignments and transcoding with other terminologies (OMIM phenotype, ICD-10/11, SNOMED-CT, ...) @Orphanet, Marc or @davidlagorce for IT-related issues (HIS, tool, ORPHAcodes IT implementation ...) @mutaz-amin for genetics-related requests (OMIM gene) @moi-epiUS14, Moï for epidemiology-related requests

We will look into this request of creation and it seems it will go to @mutaz-amin since genetic variants related, and he will come back to you asap Kind Regards, Marie-Cécile

[Orphanet-ES]

Dear Mutaz,

Is there any news regarding this issue?

Kind regards,

María elena

[MCecile-US14]

Dear @Orphanet-ES,

Unfortunately @mutaz-amin is currently out of office for an undetermined time, we will keep you updated as soon as possible with any news. But It will probably be too short to be included in the next Nomenclature Pack. Thank you for your understanding, Kind Regards, Marie-Cécile

[mutaz-amin]

Dear @Orphanet-ES,

I apologize for the delay. I will present this in our next disease meeting and get back to you with the updates. Thank you very much for your patience

My best regards, Mutaz

[mutaz-amin]

Dear @Orphanet-ES ,

After reviewing the literature of GLDN-related Lethal congenital contracture syndrome type 11, I found that several types of Lethal congenital contracture syndrome are missing from Orphanet (types 6 to 11). However, some of these missing phenotypes were described as Arthrogryposis multiplex congenita which is a separate group in Orphanet (ORPHA:1037). For instance, mutations in GLDN gene are reported in this publication (PMID: 35806855) as Lethal congenital contracture syndrome type 11 while in this publication (PMID: 27616481) as Arthrogryposis multiplex congenita and in this publication (PMID: 28726266), it was reported as both. In order to resolve this confusion, we contaced an expert in order to clarify the distinction between these phenotypes.

Therefore, this will probably need a more thorough revision of the entities considered as Lethal Congenital Contracture Syndrome or Arthrogryposis multiplex congenita or both. I will keep you updated with the discussions

Thank you very much

Mutaz

[Orphanet-ES]

Dear @mutaz-amin

Thanks for the update. I have forwarded your comment to the expert who contacted us, so that he knows that we are still investigating the matter, and I am waiting for your experts to clarify it.

Kind regards,

María Elena

[MCecile-US14]

Dear Maria-Elena,

I will take over and keep you update on this since the expert contacted by Mutaz is part of ERN BOND and I am currently conducting revision of phenotypes and classification with this ERN. Kind Regards, Marie-Cécile

[Orphanet-ES]

Dear @MCecile-US14 ,

Is there any news regarding this issue?

Kind regards,

María Elena

[MCecile-US14]

Dear @Orphanet-ES,

I am still waiting from ERN BOND experts feedbacks about these entities. I hope to solve the issue by the end of the year. i will let you know as soon as it is updated Thank you for your understanding, Kind Regards, Marie-Cécile

[Orphanet-ES]

Dear @MCecile-US14 ,

Is there any news regarding this syndrome?

Kind regards,

María Elena

[MCecile-US14]

Dear @Orphanet-ES,

Thank you for the reminder, unfortunately no news since we are struggling to get feedbacks about those contracture syndromes. At the moment, it will be difficult to revise all groups entities mentionned above. Nevertheless I will try to proceed with the missing creation as soon as possible with the help of @Mickael-Orphanet and keep you update.

Also as you mentioned in your first ticket do you know if Dr. Natera de Benito published his case report? Thank you for your patience, Kind Regards Marie-Cécile

[Orphanet-ES]

Dear @MCecile-US14 ,

Thanks for your answer. We will ask Dr. Natera if he has already published the case and we will inform you when he answers.

Kind regards,

María Elena

[Orphanet-ES]

Dear @MCecile-US14 .

Dr. Natera has informed us that this case is still pending publication, but has provided us with the following reference for your consideration.

Mis EK, Al-Ali S, Ji W, Spencer-Manzon M, Konstantino M, Khokha MK, Jeffries L, Lakhani SA. The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence. Am J Med Genet A. 2020 Oct;182(10):2291-2296. doi: 10.1002/ajmg.a.61783. Epub 2020 Aug 19. PMID: 32812332.

If you have more questions about this, please let us know.

Kind regards,

María Elena

[MCecile-US14]

Dear @Orphanet-ES,

Thank you for the kind update and follow up and for the reference it will be useful :) We will let you know asap about the creation of GLDN variants new syndrome; while evaluating the need to update other contracture syndromes

Kind Regards Marie-Cécile

[Orphanet-ES]

Dear @MCecile-US14 ,

Is there any news regarding the creation of GLDN variants new syndrome?

Kind regards,

María Elena