Ce este sindromul Kleefstra

Ce este sindromul Kleefstra?

Kleefstra syndrome is a disorder that involves many parts of the body. Sindromul Kleefstra este o tulburare care implic mai multe pri ale corpului. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Caracteristici ale sindromului Kleefstra includ intarziere de dezvoltare i dizabiliti intelectuale, sever vorbire limitat sau absent, iar tonusul muscular slab (hipotonie). Affected individuals also have an unusually small head size (microcephaly) and a wide, short skull (brachycephaly). Persoanele afectate, de asemenea, o dimensiune neobisnuit de mici cap (microcefalie) i o gam larg, craniu scurt (Brahicefalie). Distinctive facial features include eyebrows that grow together in the middle (synophrys), widely spaced eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), nostrils that open to the front rather than downward (anteverted nares), a protruding jaw (prognathism), rolled out (everted) lips, and a large tongue (macroglossia). Caracteristici distinctive faciale includ sprncene care cresc mpreun n centru (synophrys), ochii larg distanate (hipertelorism), un aspect scufundat de la mijlocul feei (midface hipoplazia), narile care se deschid n fa, mai degrab dect (nares anteverted) n jos, o falc proeminent (prognatism), lansat buze (rsfrnt), i o limb de mare (macroglosia). Affected individuals may have a high birth weight and childhood obesity. Persoanele afectate pot avea o greutate mare la natere i obezitatea infantila.

People with Kleefstra syndrome may also have structural brain abnormalities, congenital heart defects, genitourinary abnormalities, seizures, and a tendency to develop severe respiratory infections. Persoanele cu sindrom Kleefstra pot avea, de asemenea, anomalii structurale cerebrale, defecte cardiace congenitale, anomalii genito-urinare, convulsii, i o tendin de a dezvolta infecii respiratorii severe. During childhood they may exhibit features of autism or related developmental disorders affecting communication and social interaction. In timpul copilariei ei pot prezenta caracteristici de autism sau tulburari de dezvoltare asociate care afecteaz comunicare i interaciune social. In adolescence, they may develop a general loss of interest and enthusiasm (apathy) or unresponsiveness (catatonia). n adolescen, ei pot dezvolta o pierdere general de interes i entuziasm (apatie) sau lips de reacie (catatonie).

How common is Kleefstra syndrome? Cat de comuna este sindromul Kleefstra?

The prevalence of Kleefstra syndrome is unknown. Prevalena sindromului Kleefstra este necunoscut. Only recently has testing become available to distinguish it from other disorders with similar features. Doar recent au devenit disponibile pentru ao distinge de alte tulburri cu caracteristici similare.

What are the genetic changes related to Kleefstra syndrome? Care sunt schimbrile genetice n legtur cu sindromul Kleefstra?

Kleefstra syndrome is caused by the loss of the EHMT1 gene or by mutations that disable its function. Sindromul Kleefstra este cauzat de pierderea genei EHMT1 sau prin mutaii care dezactiveaz funcia sa. The EHMT1 gene provides instructions for making an enzyme called euchromatic histone methyltransferase 1. Histone methyltransferases are enzymes that modify proteins called histones. Gena EHMT1 ofer instruciuni pentru fabricarea unei enzime numite histone euchromatic metiltransferaza 1. methyltransferases Histone sunt enzime care modific proteine numite histones. Histones are structural proteins that attach (bind) to DNA and give chromosomes their shape. Histones sunt proteine structurale care se ataeaz (leag) de ADN si da cromozomi forma lor. By adding a molecule called a methyl group to histones, histone methyltransferases can turn off (suppress) the activity of certain genes, which is essential for normal development and function. Prin adugarea o molecula numita o grupare metil la histone, methyltransferases histone poate opri (suprima) activitatea anumitor gene, care este esenial pentru dezvoltarea i funcionarea normal.

Most people with Kleefstra syndrome are missing a sequence of about 1 million DNA building blocks (base pairs) on one copy of chromosome 9 in each cell. Cele mai multe persoane cu sindrom Kleefstra lipsesc o secven de aproximativ 1 milion de blocuri de ADN (perechi de baze) pe o copie a cromozomului 9 n fiecare celul. The deletion occurs near the end of the long (q) arm of the chromosome at a location designated q34.3, a region containing the EHMT1 gene. tergerea apare aproape de sfritul lungi (q) braul cromozomului la o locaie desemnat q34.3, o regiune care conine gena EHMT1. Some affected individuals have shorter or longer deletions in the same region. Unele persoane afectate au deleii mai scurte sau mai lungi din aceeai regiune.

The loss of the EHMT1 gene from one copy of chromosome 9 in each cell is believed to be responsible for the characteristic features of Kleefstra syndrome in people with the 9q34.3 deletion. Pierderea a genei EHMT1 de la un exemplar din cromozomul 9 n fiecare celul este considerat a fi responsabil pentru trsturile caracteristice ale sindromului Kleefstra la persoanele cu tergerea 9q34.3. However, the loss of other genes in the same region may lead to additional health problems in some affected individuals. Cu toate acestea, pierderea de alte gene din aceeai regiune poate duce la probleme de sntate suplimentare, n unele persoane afectate.

About 25 percent of individuals with Kleefstra syndrome do not have a deletion of genetic material from chromosome 9; Aproximativ 25 la suta din persoanele cu sindrom Kleefstra nu au o eliminare de material genetic de la cromozomul 9; instead, these individuals have mutations in the EHMT1 gene. n schimb, aceste persoane au mutatii ale genei EHMT1. Some of these mutations change single protein building blocks (amino acids) in euchromatic histone methyltransferase 1. Others create a premature stop signal in the instructions for making the enzyme or alter the way the gene's instructions are pieced together to produce the enzyme. Unele dintre aceste mutatii schimba blocuri individuale ale cldirilor de proteine (aminoacizi), n euchromatic metiltransferaza histone 1. Actori crea un semnal de oprire prematur n instruciunile pentru a face enzima sau modifica modul instruciunile gena sunt pus cap la cap pentru a produce enzima. These changes generally result in an enzyme that is unstable and decays rapidly, or that is disabled and cannot function properly. Aceste modificri duce, n general, ntr-o enzima care este instabil i se descompune rapid, sau c este dezactivat i nu poate funciona corect.

Either a deletion or a mutation affecting the EHMT1 gene results in a lack of functional euchromatic histone methyltransferase 1 enzyme. Fie o deleie sau o mutaie care afecteaz rezultatele gena EHMT1 ntr-o lips de funcional euchromatic metiltransferaza histone 1 enzim. A lack of this enzyme impairs proper control of the activity of certain genes in many of the body's organs and tissues, resulting in the abnormalities of development and function characteristic of Kleefstra syndrome. Lipsa acestei enzime afecteaza un control adecvat al activitii anumitor gene n multe dintre organele corpului i esuturi, care rezult n anomalii de dezvoltare i funcia caracteristic a sindromului Kleefstra.

Read more about the EHMT1 gene and chromosome 9 . Cititi mai multe despre EHMT1 gena i cromozomul 9 .

Can Kleefstra syndrome be inherited? Poate fi motenit sindromul Kleefstra?

The inheritance of Kleefstra syndrome is considered to be autosomal dominant because a deletion in one copy of chromosome 9 in each cell or a mutation in one copy of the EHMT1 gene is sufficient to cause the condition. Motenirea sindromului Kleefstra este considerat a fi autosomal dominant deoarece o deleie ntr-un exemplar de cromozomul 9 n fiecare celul sau o mutaie ntr-o copie a genei EHMT1 este suficient pentru a provoca starea. Most cases of Kleefstra syndrome are not inherited, however. Cele mai multe cazuri de sindrom Kleefstra nu sunt mostenite, cu toate acestea. The genetic change occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Schimbarea genetic se produce cel mai adesea ca un eveniment aleator n timpul formrii de celule de reproducere (oua sau spermei) sau n dezvoltarea fetal precoce. Affected people typically have no history of the disorder in their family, though they can pass the disorder on to their children. Persoanele afectate au de obicei nici o istorie de tulburare n familia lor, dei ele pot trece tulburare pe copiii lor. Only a few people with Kleefstra syndrome have been known to reproduce. Doar cteva persoane cu sindrom Kleefstra au fost cunoscute de a reproduce.

Rarely, affected individuals inherit a chromosome 9 with a deleted segment from an unaffected parent. Rar, persoanele afectate moteni o cromozomul 9, cu un segment ters dintr-o mam neafectat. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. n aceste cazuri, printele poart o rearanjare cromozomiale numit o translocaie echilibrat, n care nici un material genetic este ctigat sau pierdut. Balanced translocations usually do not cause any health problems; Translocations echilibrate, de obicei, nu cauzeaz probleme de sntate; however, they can become unbalanced as they are passed to the next generation. cu toate acestea, ele pot deveni dezechilibrat n care acestea sunt trecut la urmtoarea generaie. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Copiii care mostenesc o translocaie neechilibrat poate avea o rearanjare cromozomiale cu material genetic suplimentar sau lips. Individuals with Kleefstra syndrome who inherit an unbalanced translocation are missing genetic material from the long arm of chromosome 9. Persoanele cu sindrom Kleefstra care mostenesc o translocaie neechilibrat lipsesc material genetic de la braul lung al cromozomului 9.

A few individuals with Kleefstra syndrome have inherited the chromosome 9q34.3 deletion from an unaffected parent who is mosaic for the deletion. Cteva persoane cu sindrom Kleefstra au motenit cromozom 9q34.3 tergerea de la un printe afectat care este mozaic pentru tergerea. Mosaic means that an individual has the deletion in some cells (including some sperm or egg cells), but not in others. Mozaic nseamn c o persoan are eliminarea n unele celule (inclusiv unele celule spermatice sau ou), dar nu i n altele.

Where can I find information about diagnosis or management of Kleefstra syndrome? Unde pot gsi informaii despre diagnosticul sau managementul sindromului Kleefstra?

These resources address the diagnosis or management of Kleefstra syndrome and may include treatment providers. Aceste resurse adresa diagnosticul sau managementul sindromului Kleefstra i poate include furnizorii de tratament.

Gene Review: Kleefstra Syndrome Gene opinie: Sindromul Kleefstra Genetic Testing Registry: Chromosome 9q deletion syndrome Testarea genetica Registrul: sindromul cromozomului 9q tergere

You might also find information on the diagnosis or management of Kleefstra syndrome in Educational resources and Patient support . S-ar putea gsi, de asemenea, informaii cu privire la diagnosticul sau managementul sindromului Kleefstra n resurse educaionale i de sprijin pacientului .

General information about the diagnosis and management of genetic conditions is available in the Handbook. Informaii generale despre diagnosticul i managementul de boli genetice este disponibil n Manualul. Read more about genetic testing , particularly the difference between clinical tests and research tests . Cititi mai multe despre testarea genetica , mai ales diferenta dintre testele clinice i teste de cercetare .

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook. Pentru a localiza un furnizor de asistenta medicala, vezi Cum pot gsi un profesionist n domeniu mea genetic? din Manualul.

Where can I find additional information about Kleefstra syndrome? Unde pot gsi informaii suplimentare despre sindromul Kleefstra?

You may find the following resources about Kleefstra syndrome helpful. Putei gsi urmtoarele resurse despre sindromul Kleefstra de ajutor. These materials are written for the general public. Aceste materiale sunt scrise pentru publicul larg.

MedlinePlus MedlinePlus

- Health information - Informaii referitoare la sntate

Additional NIH Resources - National Institutes of Health Resurse suplimentare NIH - National Institutes of Health

National Human Genome Research Institute: Chromosome Abnormalities National genomului uman Institutul de Cercetare: anomalii cromozomiale

Educational resources - Information pages (3 links) Resurse educaionale - Pagini informative (3 legturi)

Patient support - For patients and families (5 links) Sprijin pacientului - Pentru pacienii i familiile (5 legturi)

You may also be interested in these resources, which are designed for healthcare professionals and researchers. Ai putea fi, de asemenea, interesat n aceste resurse, care sunt concepute pentru profesionistii din domeniul sanitar i cercettori.

Gene Reviews Review-uri Gene

- Clinical summary - Rezumat clinic

Genetic Testing Registry - Repository of genetic test information (1 link) Testarea genetica Registrul - Repository de informaii test genetic (1 link)

PubMed PubMed

- Recent literature - Literatura recente

OMIM OMIM

- Genetic disorder catalog - Catalog genetice tulburare

What other names do people use for Kleefstra syndrome? Ce alte nume de oamenii folosesc pentru sindromul Kleefstra?

9q34.3 deletion syndrome Sindromul tergere 9q34.3

9q34.3 microdeletion syndrome Sindromul 9q34.3 microdeletion

9q subtelomeric deletion syndrome 9q sindromul tergere subtelomerice

9q- syndrome Sindromul 9q-

chromosome 9q deletion syndrome cromozom sindromul 9q tergere

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook. Pentru mai multe informaii despre condiiile de numire genetice, a se vedea Genetic Acas referin situaiei Naming orientri i cum sunt boli genetice si gene numite? n Manualul.

What if I still have specific questions about Kleefstra syndrome? Ce se ntmpl dac mai avei ntrebri specifice despre sindromul Kleefstra?

Ask the Genetic and Rare Diseases Information Center ntrebai genetice i de boli rare Centrul de Informare

. .

Where can I find general information about genetic conditions? Unde pot gsi informaii generale despre condiiile genetice?

The Handbook provides basic information about genetics in clear language. Manualul ofer informaii de baz despre genetica in limbaj clar.

What does it mean if a disorder seems to run in my family? Ce nseamn dac un tulburare pare s ruleze n familia mea?

What is a chromosome? Ce este un cromozom?

Can changes in the number of chromosomes affect health and development? Poate modificri ale numrului de cromozomi afecta sntatea i dezvoltarea?

Are chromosomal disorders inherited? Sunt motenit boli cromozomiale?

These links provide additional genetics resources that may be useful. Aceste legturi furnizeaz resurse suplimentare genetica care pot fi utile.

Genetics and Health Genetic i Sntate

Resources for Patients and Families Resurse pentru pacienti si familiile

Resources for Health Professionals Resurse pentru Health Professionals

What glossary definitions help with understanding Kleefstra syndrome? Ce definiii glosar de ajutor pentru nelegerea sindromul Kleefstra?

acids ; autism ; autosomal ; autosomal dominant ; brachycephaly ; cell ; chromosome ; congenital ; deletion ; developmental acizi ; autism ; autozomale ; autozomal dominant , Brahicefalie , celul , cromozomiale , congenitale , tergere ; dezvoltare delay ; disability ; DNA ; egg ; enzyme ; gene ; histone ; hypertelorism ; hypoplasia ; hypotonia ; inherit ; inheritance ; inherited ; macroglossia ; methyl ; methyltransferase ; microcephaly ; microdeletion syndrome ; molecule ; mosaic ; muscle tone ; mutation ; prevalence ; prognathism ; protein ; rearrangement ; reproductive cells ; respiratory ; sperm ; syndrome ; translocation sindromul , molecul , mozaic , tonusul muscular , mutaie , prevalena , prognatism , protein , rearanjare , celule reproductive , respiratorii , sperm , sindrom ; translocaie

You may find definitions for these and many other terms in the Genetics Home Reference Glossary . Putei gsi definiii pentru aceste i multe alte termeni din Genetic Acas referin Glosar .

See also Understanding Medical Terminology . A se vedea, de asemenea, nelegerea terminologie medical .

References (8 links) Referine (8 legturi)

The resources on this site should not be used as a substitute for professional medical care or advice. Resursele de pe acest site nu ar trebui s fie folosit ca un substitut pentru ngrijire medical profesional sau consiliere. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. Utilizatorii care doresc informaii despre o boal genetic personal, sindrom, sau condiie ar trebui s consulte cu un profesionist din domeniul sanitar calificat. See How can I find a genetics professional in my area? in the Handbook. Vezi Cum pot gsi un profesionist n domeniu mea genetic? din Manualul.