Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews

Weisz-Hubshman, Monika; Meirson, Hadas; Michaelson‐Cohen, Rachel; Beeri, Rachel; Tzur, Shay; Bormans, Concetta; Modai, Shira; Shomron, Noam; Shilon, Yuval; Banne, Ehud; Orenstein, Naama; Konen, Osnat; Marek‐Yagel, Dina; Veber, Alvit; Shalva, Nechama; Imagawa, Eri; Matsumoto, Naomichi; Lev, Dorit; Sagie, T.; Raas‐Rothschild, Annick; Ben‐Zeev, Bruria; Basel‐Salmon, Lina; Behar, Doron M.; Heimer, Gali

doi:10.1016/j.ejpn.2019.02.003

Cited by 17 publications

(26 citation statements)

References 18 publications

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“…Weisz‐Hubshman et al reported six patients from unrelated families of full or partial Yemenite Jewish blood lineage presenting early onset epileptic encephalopathy and significant growth retardation. This is the first detailed demonstration of facial dysmorphism associated with WWOX mutations including short neck, low anterior hairline, bushy eyebrows, long eye lashes and broad nasal bridge, brachydactyly and tapering fingers (Weisz‐Hubshman and Meirson, 2019). Piard J et al reported the largest cohort of individuals with WOREE syndrome (WWOX‐related epilepticencephalopathy syndrome) which include 20 additional patients from 18 unrelated families.…”

Section: Discussionmentioning

confidence: 89%

Novel compound heterozygous mutations in the WWOX gene cause early infantile epileptic encephalopathy

Yang

Zhang

Song

et al. 2019

Intl J of Devlp Neuroscience

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Defects of WW domain-containing oxidoreductase (WWOX) has been associated with autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early-onset epileptic encephalopathy. The mutations in this gene can lead to global developmental delay, acquired microcephaly, and epilepsy. We report an infant with an autosomal recessive severe early-onset epileptic encephalopathy. Whole exome sequencing analysis was applied to the patient. Novel compound heterozygous mutations in the WWOX gene, c.173-2A > G and c.775 T > C (p.Ser259Pro), were identified. The present study expands our knowledge of WWOX mutations and related phenotypes, and provides new information on the genetic defects associated with this disease for clinical diagnosis.

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Section: Discussionmentioning

confidence: 89%

Novel compound heterozygous mutations in the WWOX gene cause early infantile epileptic encephalopathy

Yang

Zhang

Song

et al. 2019

Intl J of Devlp Neuroscience

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“…Since 2014, more than 17 articles have reported the clinical data of WWOX-related epileptic encephalopathy (WOREE ; Table S1; Abdel-Salam et al, 2014;Ben-Salem, Al-Shamsi, John, Ali, & Al-Gazali, 2015;Davids et al, 2019;Ehaideb, Al-Bu Ali, Al-Obaid, Aljassim, & Alfadhel, 2018;Elsaadany, El-Said, Ali, Kamel, & Ben-Omran, 2016;Gribaa et al, 2007;Johannsen et al, 2018;Mallaret et al, 2014;Mignot et al, 2015;Piard et al, 2019;Serin, Simsek, Isik, & Gokben, 2018;Shaukat, Hertecant, El-Hattab, Ali, & Suleiman, 2018;Tabarki et al, 2015;Tarta-Arsene, Barca, Craiu, & Iliescu, 2017;Valduga et al, 2015;Weisz-Hubshman et al, 2019;Yang, Zhang, Song, Yi, & Li, 2019). Here we summarized the clinical features and genetic data of a Chinese infant, and analyzed the characteristics of genotype and clinical phenotype of this kind of disease by reviewing the relevant literatures.…”

Section: Introductionmentioning

confidence: 99%

Early onset epileptic encephalopathy caused by novel compound heterozygous mutation of WWOX gene

Yan

et al. 2020

Intl J of Devlp Neuroscience

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The human WW domain containing oxidoreductase (WWOX) gene has been identified as a tumor suppressor gene. However, recent reports have demonstrated its dominant role in autosomal recessive disorders of the central nervous system, especially in early onset epileptic encephalopathy. Here, we report a Chinese case with novel compound heterozygous mutation of WWOX gene (c.229_230+2del mutation originated from her mother and c.1065dup (p.Ala356Serfs*173) variation from her father), and compare them to previously reported 59 WWOX‐related epileptic encephalopathy (WOREE). Early onset and frequent epileptic seizures in the postnatal period, hypsarrhythmia patterns in EEG background and retarded development are the most important characteristics of WOREE in infants. Although the seizures in our case can be controlled by phenobarbital and topiramate, the prognosis of WOREE is poor.

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“…Both the expertise of professionals, especially professionals engaged in traditional genetic counselling and paediatrics, and the lived experience of families with affected children may well give (experiential) input to further debates about the precise content of the screening package focused on serious (congenital and childhood) disorders. This content may need continuous updating taking into account findings of such studies and progress in medical science ( Capalbo et al , 2019 ; Kaseniit et al , 2019 ; Weisz-Hubshman et al , 2019 ; Fridman et al , 2020 ). The inclusion of the patient perspective is crucial in order to avoid any medical bias and one-dimensionality.…”

Section: Ethical Reflectionsmentioning

confidence: 99%

The ethics of preconception expanded carrier screening in patients seeking assisted reproduction

Wert

Hout

Goddijn

et al. 2021

Human Reproduction Open

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Expanded carrier screening (ECS) entails a screening offer for carrier status for multiple recessive disorders simultaneously and allows testing of couples or individuals regardless of ancestry or geographic origin. Although universal ECS—referring to a screening offer for the general population—has generated considerable ethical debate, little attention has been given to the ethics of preconception ECS for patients applying for assisted reproduction using their own gametes. There are several reasons why it is time for a systematic reflection on this practice. Firstly, various European fertility clinics already offer preconception ECS on a routine basis, and others are considering such a screening offer. Professionals involved in assisted reproduction have indicated a need for ethical guidance for ECS. Secondly, it is expected that patients seeking assisted reproduction will be particularly interested in preconception ECS, as they are already undertaking the physical, emotional and economic burdens of such reproduction. Thirdly, an offer of preconception ECS to patients seeking assisted reproduction raises particular ethical questions that do not arise in the context of universal ECS: the professional’s involvement in the conception implies that both parental and professional responsibilities should be taken into account. This paper reflects on and provides ethical guidance for a responsible implementation of preconception ECS to patients seeking assisted reproduction using their own gametes by assessing the proportionality of such a screening offer: do the possible benefits clearly outweigh the possible harms and disadvantages? If so, for what kinds of disorders and under what conditions?

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Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews

Cited by 17 publications

References 18 publications

Novel compound heterozygous mutations in the WWOX gene cause early infantile epileptic encephalopathy

Novel compound heterozygous mutations in the WWOX gene cause early infantile epileptic encephalopathy

Early onset epileptic encephalopathy caused by novel compound heterozygous mutation of WWOX gene

The ethics of preconception expanded carrier screening in patients seeking assisted reproduction

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