Fragile X Premutation Carrier Epidemiology and Symptomatology in Israel-Results from a Tertiary Child Developmental Center.
Fragile X syndrome (FXS) is the most prevalent known genetically inherited cause for autism and intellectual disability. Premutation state can cause several clinical disorders as well. We aimed to perform a nesting approach to acquire data with regard to first degree relatives of index fragile X cases at the largest child development center in Israel in order to map characteristics of Israeli FXS permutation women carriers. Seventy-nine women were referred due to a related fragile X syndrome patient, mainly an offspring or sibling. General information regarding demographics, ethnicity, and associated medical conditions were collected using interviews and structured questionnaires. Thirteen (17 %) of the women who were referred as "carrier" were proven to be actually full mutation. The mean years of education were 14 (±1.51, range 12-17). Twenty-one women (27 %) originated from Tunisia (mainly from the island of Djerba). Ten women (13 %) reported delivery of their affected offspring beyond 41 gestational weeks. Twenty-two percent of women with premutation reported symptoms consistent with learning difficulties, mainly dyscalculia, and 14 % reported ADHD symptoms. Awareness about clinical disorders of the carriers was existent only in 25 % of the patients. Increased awareness and knowledge dissemination concerning premutation symptomatology and associated medical conditions are warranted. We suggest a national registry to be installed in different countries in order to identify fragile X premutation carriers at increased risk for various medical complications.
The Weinberg Child Development Center, Edmond and Lily Safra Children's Hospital, Tel Hashomer, Israel. Lidia.Gabis@sheba.health.gov.il.|Tel Aviv University, 52621, Tel Aviv, Israel. Lidia.Gabis@sheba.health.gov.il.
Lidia V
LV
Gabis
Pediatric Endocrine and Diabetes Unit, Edmond and Lily Safra Children's Hospital, Tel Hashomer, Israel.
Noah
N
Gruber
The Danek Gertner Institute of Human Genetics, Tel Hashomer, Israel.|Tel Aviv University, 52621, Tel Aviv, Israel.
Michal
M
Berkenstadt
The Weinberg Child Development Center, Edmond and Lily Safra Children's Hospital, Tel Hashomer, Israel.
Shahar
S
Shefer
The Weinberg Child Development Center, Edmond and Lily Safra Children's Hospital, Tel Hashomer, Israel.
Odelia Leon
OL
Attia
The Weinberg Child Development Center, Edmond and Lily Safra Children's Hospital, Tel Hashomer, Israel.
Dana
D
Mula
IVF Unit, Sheba Medical Center, Tel Hashomer, and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.|Tel Aviv University, 52621, Tel Aviv, Israel.
Yoram
Y
Cohen
IVF Unit, Sheba Medical Center, Tel Hashomer, and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.|Tel Aviv University, 52621, Tel Aviv, Israel.
Shai E
SE
Elizur
D004522:Educational Status; D005190:Family; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000453:epidemiology / Q000235:genetics; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006579:Heterozygote; D006801:Humans; D007557:Israel / Q000453:epidemiology; D009154:Mutation; D011795:Surveys and Questionnaires; D062606:Tertiary Care Centers
D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human
Carrier; FMR1; FMRP; Fragile X; Premutation